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2
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76149115260
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Epidemiology of holoprosencephaly: Prevalence and risk factors
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Orioli IM, Castilla EE. Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet 2010; 154C:13-21.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 13-21
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Orioli, I.M.1
Castilla, E.E.2
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3
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76149126464
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Management of children with holoprosencephaly
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The authors of this article are clinicians and researchers in the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. This article provides a very thorough and valuable resource for clinicians who care for children with HPE as it reviews the clinical management and outcomes of children with HPE
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Levey EB, Stashinko E, Clegg NJ, Delgado MR. Management of children with holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C: 183-190. The authors of this article are clinicians and researchers in the Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. This article provides a very thorough and valuable resource for clinicians who care for children with HPE as it reviews the clinical management and outcomes of children with HPE.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 183-190
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Levey, E.B.1
Stashinko, E.2
Clegg, N.J.3
Delgado, M.R.4
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4
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76149142178
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Holoprosencephaly flashcards: A summary for the clinician
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This article provides a summary for clinicians of key information about HPE, in the format of 'flashcards'. The flashcards illustrate the prevalence, causes, and types of HPE, as well as the craniofacial and neurological findings, physical examination features, the clinical approach, and resources
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Solomon BD, Pineda-Alvarez DE, Mercier S, et al. Holoprosencephaly flashcards: A summary for the clinician. Am J Med Genet C Semin Med Genet 2010; 154C:3-7. This article provides a summary for clinicians of key information about HPE, in the format of 'flashcards'. The flashcards illustrate the prevalence, causes, and types of HPE, as well as the craniofacial and neurological findings, physical examination features, the clinical approach, and resources.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 3-7
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Solomon, B.D.1
Pineda-Alvarez, D.E.2
Mercier, S.3
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5
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76149133123
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Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation
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This article is a valuable resource for understanding the spectrum of HPE specifically as it relates to neuroimaging. The article thoroughly describes the cerebral structure of each type of HPE, with accompanying neuroimages and labels to highlight key features
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Hahn JS, Barnes PD. Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet 2010; 154C:120-132. This article is a valuable resource for understanding the spectrum of HPE specifically as it relates to neuroimaging. The article thoroughly describes the cerebral structure of each type of HPE, with accompanying neuroimages and labels to highlight key features.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 120-132
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Hahn, J.S.1
Barnes, P.D.2
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6
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76149089869
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Neuropathology of holoprosencephaly
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This article provides a thorough description of the neuropathology associated with the spectrum of HPE, complemented by images of pathological specimens
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Marcorelles P, Laquerriere A. Neuropathology of holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C:109-119. This article provides a thorough description of the neuropathology associated with the spectrum of HPE, complemented by images of pathological specimens.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 109-119
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Marcorelles, P.1
Laquerriere, A.2
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7
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78649513977
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Septopreoptic holoprosencephaly: A mild subtype associated with midline craniofacial anomalies
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[Epub ahead of print] 8 Fertuzinhos S, Krsnik Z, Kawasawa YI, et al. Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplasia. Cereb Cortex
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Hahn JS, Barnes PD, Clegg NJ, Stashinko EE. Septopreoptic holoprosencephaly: A mild subtype associated with midline craniofacial anomalies. AJNR Am J Neuroradiol 2010. [Epub ahead of print] 8 Fertuzinhos S, Krsnik Z, Kawasawa YI, et al. Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplasia. Cereb Cortex 2009; 19:2196-2207.
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AJNR Am J Neuroradiol 2010
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, pp. 2196-2207
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Hahn, J.S.1
Barnes, P.D.2
Clegg, N.J.3
Stashinko, E.E.4
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8
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0030294408
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
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Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996; 14:357-360.
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Roessler, E.1
Belloni, E.2
Gaudenz, K.3
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9
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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
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Ming JE, Kaupas ME, Roessler E, et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 2002; 110:297-301.
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Ming, J.E.1
Kaupas, M.E.2
Roessler, E.3
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10
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67449132620
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Clinical spectrum of SIX3- associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function
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This article represents the largest comprehensive evaluation of patients with mutations in SIX3. The phenotypic analysis reveals that SIX3 mutations result in relatively severe HPE, and the severity can be correlated with genotype based upon a mutation-specific functional assay in zebrafish
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Lacbawan F, Solomon BD, Roessler E, et al. Clinical spectrum of SIX3- associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function. J Med Genet 2009; 46:389-398. This article represents the largest comprehensive evaluation of patients with mutations in SIX3. The phenotypic analysis reveals that SIX3 mutations result in relatively severe HPE, and the severity can be correlated with genotype based upon a mutation-specific functional assay in zebrafish.
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(2009)
J Med Genet
, vol.46
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Lacbawan, F.1
Solomon, B.D.2
Roessler, E.3
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11
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76149115564
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Analysis of genotype-phenotype correlations in human holoprosencephaly
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This article is a valuable resource for clinicians and genetic counselors to better understand the correlation between genotype and phenotype in HPE. For each known HPE gene, the paper summarizes the characteristic phenotype, the typical mode of inheritance, and the penetrance. This is followed by a statistical analysis of the spectrum of mutations and structural brain anomalies
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Solomon BD, Mercier S, Velez JI, et al. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C:133-141. This article is a valuable resource for clinicians and genetic counselors to better understand the correlation between genotype and phenotype in HPE. For each known HPE gene, the paper summarizes the characteristic phenotype, the typical mode of inheritance, and the penetrance. This is followed by a statistical analysis of the spectrum of mutations and structural brain anomalies.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 133-141
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Solomon, B.D.1
Mercier, S.2
Velez, J.I.3
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12
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76149145050
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Cyclopia (synophthalmia) in Smith-Lemli-Opitz Syndrome: First reported case and consideration of mechanism
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Weaver DD, Solomon BD, Akin-Samson K, et al. Cyclopia (synophthalmia) in Smith-Lemli-Opitz Syndrome: First reported case and consideration of mechanism. Am J Med Genet C Semin Med Genet 2010; 154C:142-145.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 142-145
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Weaver, D.D.1
Solomon, B.D.2
Akin-Samson, K.3
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13
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77951632193
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Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
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Hehr U, Pineda-Alvarez DE, Uyanik G, et al. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet 2010; 127:555-561.
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Hum Genet
, vol.127
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Hehr, U.1
Pineda-Alvarez, D.E.2
Uyanik, G.3
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14
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69249228577
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Semilobar holoprosencephaly with associated cyclopia and radial aplasia: First trimester diagnosis by means of integrating 2D-3D ultrasound
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Dane B, Dane C, Aksoy F, Yayla M. Semilobar holoprosencephaly with associated cyclopia and radial aplasia: First trimester diagnosis by means of integrating 2D-3D ultrasound. Arch Gynecol Obstet 2009; 280:647-651.
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Arch Gynecol Obstet
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Dane, B.1
Dane, C.2
Aksoy, F.3
Yayla, M.4
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15
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76149132026
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Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
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Kauvar EF, Solomon BD, Curry CJ, et al. Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am J Med Genet C Semin Med Genet 2010; 154C:158-169.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 158-169
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Kauvar, E.F.1
Solomon, B.D.2
Curry, C.J.3
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16
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76149108186
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Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
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Keaton AA, Solomon BD, van Essen AJ, et al. Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature. Am J Med Genet C Semin Med Genet 2010; 154C:170-175.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 170-175
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Keaton, A.A.1
Solomon, B.D.2
Van Essen, A.J.3
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17
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76149131369
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Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature
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Raam MS, Solomon BD, Shalev SA, Muenke M. Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature. Am J Med Genet C Semin Med Genet 2010; 154C:176-182.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 176-182
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Raam, M.S.1
Solomon, B.D.2
Shalev, S.A.3
Muenke, M.4
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18
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76149131371
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Risk factors for nonsyndromic holoprosencephaly in the National Birth Defects Prevention Study
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Miller EA, Rasmussen SA, Siega-Riz AM, et al. Risk factors for nonsyndromic holoprosencephaly in the National Birth Defects Prevention Study. Am J Med Genet C Semin Med Genet 2010; 154C:62-72.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 62-72
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Miller, E.A.1
Rasmussen, S.A.2
Siega-Riz, A.M.3
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19
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76149131370
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Non-genetic risk factors for holoprosencephaly
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This article provides a summary of the non-genetic risk factors for HPE based on case reports and case series, animal studies, and epidemiologic studies from four case-control studies, including the Kyoto Embryo Study, the California Birth Defects Monitoring Program, the Latin American Study of Congenital Malformations, and the National Birth Defects Prevention Study
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Johnson CY, Rasmussen SA. Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C:73-85. This article provides a summary of the non-genetic risk factors for HPE based on case reports and case series, animal studies, and epidemiologic studies from four case-control studies, including the Kyoto Embryo Study, the California Birth Defects Monitoring Program, the Latin American Study of Congenital Malformations, and the National Birth Defects Prevention Study.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 73-85
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Johnson, C.Y.1
Rasmussen, S.A.2
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21
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77953615518
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Identification of Hedgehog signaling inhibitors with relevant human exposure by small molecular screening
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Lipinski RJ, Bushman W. Identification of Hedgehog signaling inhibitors with relevant human exposure by small molecular screening. Toxicol In Vitro 2010; 24:1404-1409.
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Toxicol In Vitro
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Lipinski, R.J.1
Bushman, W.2
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22
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76149133124
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The molecular genetics of holoprosencephaly
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This article reviews the molecular genetics of HPE, including the history of how the HPE genetic loci were mapped, the role of model organisms in understanding development, and how midline and forebrain development proceeds
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Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet 2010; 154C:52-61. This article reviews the molecular genetics of HPE, including the history of how the HPE genetic loci were mapped, the role of model organisms in understanding development, and how midline and forebrain development proceeds.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 52-61
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Roessler, E.1
Muenke, M.2
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24
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Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
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Bendavid C, Dubourg C, Gicquel I, et al. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet 2006; 119:1-8.
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Hum Genet
, vol.119
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Bendavid, C.1
Dubourg, C.2
Gicquel, I.3
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25
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Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
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Dubourg C, Lazaro L, Pasquier L, et al. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat 2004; 24:43-51.
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Hum Mutat
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Dubourg, C.1
Lazaro, L.2
Pasquier, L.3
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26
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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis
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Roessler E, El-Jaick KB, Dubourg C, et al. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Hum Mutat 2009; 30:E921-E935.
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Hum Mutat
, vol.30
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Roessler, E.1
El-Jaick, K.B.2
Dubourg, C.3
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27
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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly- like features
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Roessler E, Du YZ, Mullor JL, et al. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly- like features. Proc Natl Acad Sci U S A 2003; 100:13424-13429.
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Roessler, E.1
Du, Y.Z.2
Mullor, J.L.3
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28
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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly
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Roessler E, Pei W, Ouspenskaia MV, et al. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab 2009; 98:225-234.
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Roessler, E.1
Pei, W.2
Ouspenskaia, M.V.3
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29
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78649513377
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A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin- releasing hormone deficiency in humans
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Arauz RF, Solomon BD, Pineda-Alvarez DE, et al. A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin- releasing hormone deficiency in humans. Mol Syndromol 2010; 1:59-66.
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Mol Syndromol
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Arauz, R.F.1
Solomon, B.D.2
Pineda-Alvarez, D.E.3
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31
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67749097722
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Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci
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This is the first aCGH study to examine a large cohort of patients with HPE. The study reveals a high frequency of submicroscopic anomalies and updates the map of HPE candidate loci
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Bendavid C, Rochard L, Dubourg C, et al. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci. Hum Mutat 2009; 30:1175-1182. This is the first aCGH study to examine a large cohort of patients with HPE. The study reveals a high frequency of submicroscopic anomalies and updates the map of HPE candidate loci.
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(2009)
Hum Mutat
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, pp. 1175-1182
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Bendavid, C.1
Rochard, L.2
Dubourg, C.3
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33
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Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE
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[Epub ahead of print] This aCGH study examines a large cohort of individuals with deletions of known and candidate HPE loci, followed by correlation with the presence or absence of HPE. The study supports the hypothesis that the interaction of multiple genetic and environmental factors is required to result in HPE
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Rosenfeld JA, Ballif BC, Martin DM, et al. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum Genet 2010. [Epub ahead of print] This aCGH study examines a large cohort of individuals with deletions of known and candidate HPE loci, followed by correlation with the presence or absence of HPE. The study supports the hypothesis that the interaction of multiple genetic and environmental factors is required to result in HPE.
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(2010)
Hum Genet
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Rosenfeld, J.A.1
Ballif, B.C.2
Martin, D.M.3
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34
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Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: Craniofacial anatomy, associated malformations, and genetics
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Wenghoefer M, Ettema AM, Sina F, et al. Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: Craniofacial anatomy, associated malformations, and genetics. Cleft Palate Craniofac J 2010; 47:15-21.
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Wenghoefer, M.1
Ettema, A.M.2
Sina, F.3
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35
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76149134371
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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
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This article provides updated recommendations for the molecular evaluation of patients with HPE, including a step-by-step algorithm
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Pineda-Alvarez D, Dubourg C, David V, et al. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet 2010; 154C:93-101. This article provides updated recommendations for the molecular evaluation of patients with HPE, including a step-by-step algorithm.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 93-101
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Pineda-Alvarez, D.1
Dubourg, C.2
David, V.3
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36
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77951773112
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Narcolepsy with cataplexy associated with holoprosencephaly misdiagnosed as epileptic drop attacks
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Plazzi G, Tonon C, Rubboli G, et al. Narcolepsy with cataplexy associated with holoprosencephaly misdiagnosed as epileptic drop attacks. Mov Disord 2010; 25:780-782.
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Plazzi, G.1
Tonon, C.2
Rubboli, G.3
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37
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77956095780
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Mutations in ZIC2 in human holoprosencephaly: Description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals
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This article describes the characteristic phenotype of patients with HPE and ZIC2 mutations, and reveals how ZIC2-related HPE differs from HPE due to other causes given its lack of typical facial dysmorphisms. The study also emphasizes the importance of examining other organ systems in patients with HPE, not only those 'above-the-neck'
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Solomon BD, Lacbawan FL, Mercier S, et al. Mutations in ZIC2 in human holoprosencephaly: Description of a novel ZIC2-specific phenotype and comprehensive analysis of 157 individuals. J Med Genet 2010; 47:513-524. This article describes the characteristic phenotype of patients with HPE and ZIC2 mutations, and reveals how ZIC2-related HPE differs from HPE due to other causes given its lack of typical facial dysmorphisms. The study also emphasizes the importance of examining other organ systems in patients with HPE, not only those 'above-the-neck'.
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(2010)
J Med Genet
, vol.47
, pp. 513-524
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Solomon, B.D.1
Lacbawan, F.L.2
Mercier, S.3
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A novel SIX3 mutation segregates with holoprosencephaly in a large family
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Solomon BD, Lacbawan F, Jain M, et al. A novel SIX3 mutation segregates with holoprosencephaly in a large family.Am J Med Genet A 2009; 149A:919-925.
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Am J Med Genet A
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Solomon, B.D.1
Lacbawan, F.2
Jain, M.3
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Mutations in the human SIX3 gene in holoprosencephaly are loss of function
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Domene S, Roessler E, El-Jaick KB, et al. Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet 2008; 17:3919-3928.
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Hum Mol Genet
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El-Jaick, K.B.3
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The full spectrum of holoprosencephaly- associated mutations within the ZIC2 gene in humans predicts lossof- function as the predominant disease mechanism
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Roessler E, Lacbawan F, Dubourg C, et al. The full spectrum of holoprosencephaly- associated mutations within the ZIC2 gene in humans predicts lossof- function as the predominant disease mechanism. Hum Mutat 2009; 30:E541-E554.
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Dubourg, C.3
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42
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Parental perspectives on living with a child with HoPE
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This article is a great resource for parents of children with HPE and for clinicians. It describes the experiences and perceived needs of a small group of parents, in conjunction with discussing literature relevant to the care of children with HPE
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Stashinko EE, Harley LA, Steele RA, Clegg NJ. Parental perspectives on living with a child with HoPE. Am J Med Genet C Semin Med Genet 2010; 154C:197-201. This article is a great resource for parents of children with HPE and for clinicians. It describes the experiences and perceived needs of a small group of parents, in conjunction with discussing literature relevant to the care of children with HPE.
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(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
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Stashinko, E.E.1
Harley, L.A.2
Steele, R.A.3
Clegg, N.J.4
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Genetic counseling and 'molecular' prenatal diagnosis of holoprosencephaly (HPE)
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Mercier S, Dubourg C, Belleguic M, et al. Genetic counseling and 'molecular' prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Semin Med Genet 2010; 154C:191-196.
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Am J Med Genet C Semin Med Genet
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