-
1
-
-
26944469669
-
Acrocephalo-synankie, pseudo-hermaphrodisme feminin et nephropathie hypertensive
-
Allain D, Babin JP, Demarquez JL, Maillet-Mezeray G, Pillet JC, Leger H, Serville F, Martin C. 1976. Acrocephalo-synankie, pseudo-hermaphrodisme feminin et nephropathie hypertensive. Ann Paediatr 23:277-284.
-
(1976)
Ann Paediatr
, vol.23
, pp. 277-284
-
-
Allain, D.1
Babin, J.P.2
Demarquez, J.L.3
Maillet-Mezeray, G.4
Pillet, J.C.5
Leger, H.6
Serville, F.7
Martin, C.8
-
2
-
-
84907113750
-
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality
-
Alsing A, Christensen C. 1988. Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. Ophthal Paed Genet 9:149-155.
-
(1988)
Ophthal Paed Genet
, vol.9
, pp. 149-155
-
-
Alsing, A.1
Christensen, C.2
-
3
-
-
0027403248
-
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3
-
Barone CM, Marion R, Shanske A, Argamaso RV, Shprintzen RJ. 1993. Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3. Am J Med Genet 45:745-750.
-
(1993)
Am J Med Genet
, vol.45
, pp. 745-750
-
-
Barone, C.M.1
Marion, R.2
Shanske, A.3
Argamaso, R.V.4
Shprintzen, R.J.5
-
4
-
-
0007092988
-
Amniopterin embryopathy syndrome
-
Char F. 1979. Amniopterin embryopathy syndrome. Am J Dis Child 133:1189-1190.
-
(1979)
Am J Dis Child
, vol.133
, pp. 1189-1190
-
-
Char, F.1
-
5
-
-
0141756247
-
A novel locus for parietal foramina maps to chromosome 4q21-q23
-
Chen G, Zhang D, Feng G, Liu W, He L. 2003. A novel locus for parietal foramina maps to chromosome 4q21-q23. J Hum Genet 48:420-424.
-
(2003)
J Hum Genet
, vol.48
, pp. 420-424
-
-
Chen, G.1
Zhang, D.2
Feng, G.3
Liu, W.4
He, L.5
-
6
-
-
0024356911
-
Skeletal dysplasia syndrome with progroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz-Majewski syndrome
-
Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Van den Berghe H, Wisniewski L. 1989. Skeletal dysplasia syndrome with progroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz-Majewski syndrome. Am J Med Genet 32:470-474.
-
(1989)
Am J Med Genet
, vol.32
, pp. 470-474
-
-
Chrzanowska, K.H.1
Fryns, J.P.2
Krajewska-Walasek, M.3
Van den Berghe, H.4
Wisniewski, L.5
-
8
-
-
0027476349
-
Pfeiffer syndrome update, clinical subtypes. and guidelines for differential diagnosis
-
Cohen MM Jr. 1993. Pfeiffer syndrome update, clinical subtypes. and guidelines for differential diagnosis. Am J Med Genet 45:300-307.
-
(1993)
Am J Med Genet
, vol.45
, pp. 300-307
-
-
Cohen Jr., M.M.1
-
9
-
-
0027522002
-
Skeletal abnormalities in the Apert syndrome
-
Cohen MM Jr, Kreiborg S. 1993. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 47:624-632.
-
(1993)
Am J Med Genet
, vol.47
, pp. 624-632
-
-
Cohen Jr, M.M.1
Kreiborg, S.2
-
10
-
-
84878775645
-
Femoral hypoplasia-unusual facies syndrome
-
Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA. 1975. Femoral hypoplasia-unusual facies syndrome. J Pediatr 86:107-111.
-
(1975)
J Pediatr
, vol.86
, pp. 107-111
-
-
Daentl, D.L.1
Smith, D.W.2
Scott, C.I.3
Hall, B.D.4
Gooding, C.A.5
-
11
-
-
0022000935
-
Tarsal and carpal coalition and symphalangism of the Fuhrmann type: Report of a family
-
Drawbert JP, Stevens DB, Cadle RG, Hall BD. 1985. Tarsal and carpal coalition and symphalangism of the Fuhrmann type: Report of a family. J Bone Joint Surg A 67:884-889.
-
(1985)
J Bone Joint Surg A
, vol.67
, pp. 884-889
-
-
Drawbert, J.P.1
Stevens, D.B.2
Cadle, R.G.3
Hall, B.D.4
-
12
-
-
0038449055
-
Congenital parietal "foramina" associated with faulty ossification of the clavicles
-
Eckstein HB, Hoare RD. 1963. Congenital parietal "foramina" associated with faulty ossification of the clavicles. Br J Radiol 36:220-221.
-
(1963)
Br J Radiol
, vol.36
, pp. 220-221
-
-
Eckstein, H.B.1
Hoare, R.D.2
-
13
-
-
0034963476
-
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia
-
Faivre L, Cormier-Daire V, Genevieve D, Pinto G, Goulet O, Munnich A, Maroteaux P, Le Merrer M. 2001. A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. Clin Dysmorph 10:181-184.
-
(2001)
Clin Dysmorph
, vol.10
, pp. 181-184
-
-
Faivre, L.1
Cormier-Daire, V.2
Genevieve, D.3
Pinto, G.4
Goulet, O.5
Munnich, A.6
Maroteaux, P.7
Le Merrer, M.8
-
14
-
-
84980115441
-
Humero-radial synostosis
-
Frankel E. 1942. Humero-radial synostosis. Brit J Surg 31:242-245.
-
(1942)
Brit J Surg
, vol.31
, pp. 242-245
-
-
Frankel, E.1
-
16
-
-
0028297785
-
Ear anomalies, clefting and limb reduction defects: A new autosomal recessive condition?
-
Glass IA, Walford-Moore J, Chapman S, Farndon PA. 1994. Ear anomalies, clefting and limb reduction defects: A new autosomal recessive condition? Clin Dysmorphol 3:150-156.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 150-156
-
-
Glass, I.A.1
Walford-Moore, J.2
Chapman, S.3
Farndon, P.A.4
-
17
-
-
0016215357
-
Symphalangism and brachydactyly syndrome: Report of the WL symphalangism-brachydactyly syndrome: Review of literature and classification
-
Herrmann J. 1974. Symphalangism and brachydactyly syndrome: Report of the WL symphalangism-brachydactyly syndrome: Review of literature and classification. Birth Defects OAS 10:23-53.
-
(1974)
Birth Defects OAS
, vol.10
, pp. 23-53
-
-
Herrmann, J.1
-
18
-
-
0024334880
-
Humero-radio-ulnar synostosis: A new case and review
-
Hersh JH, Joyce MR, Profumo LE. 1989. Humero-radio-ulnar synostosis: A new case and review. Am J Med Genet 33:170-171.
-
(1989)
Am J Med Genet
, vol.33
, pp. 170-171
-
-
Hersh, J.H.1
Joyce, M.R.2
Profumo, L.E.3
-
19
-
-
3342986374
-
Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance
-
Hing AV, Syed N, Cunningham ML. 2004. Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance. Am J Med Genet Part A 128A:374-382.
-
(2004)
Am J Med Genet
, vol.128 A
, Issue.PART A
, pp. 374-382
-
-
Hing, A.V.1
Syed, N.2
Cunningham, M.L.3
-
20
-
-
0020389685
-
Monozygotic twins discordant for an undiagnosed skeletal dysplasia
-
Hughes HE, Bandler E, MacLeod PM. 1982. Monozygotic twins discordant for an undiagnosed skeletal dysplasia. Prog Clin Biol Res 104:259-268.
-
(1982)
Prog Clin Biol Res
, vol.104
, pp. 259-268
-
-
Hughes, H.E.1
Bandler, E.2
MacLeod, P.M.3
-
21
-
-
0017170866
-
The genetics of and associated clinical findings in humero-radial synostosis
-
Hunter AG, Cox DW, Rudd NL. 1976. The genetics of and associated clinical findings in humero-radial synostosis. Clin Genet 9:470-478.
-
(1976)
Clin Genet
, vol.9
, pp. 470-478
-
-
Hunter, A.G.1
Cox, D.W.2
Rudd, N.L.3
-
22
-
-
0019176298
-
Autosomal recessive microcephaly and micromelia in Cree Indians
-
Ives EJ, Houston CS. 1980. Autosomal recessive microcephaly and micromelia in Cree Indians. Am J Med Genet 7:351-360.
-
(1980)
Am J Med Genet
, vol.7
, pp. 351-360
-
-
Ives, E.J.1
Houston, C.S.2
-
23
-
-
0032939016
-
Juberg-Hayward syndrome: A new case report and clinical delineation of the syndrome
-
Kantaputra PN, Mongkolchaisup S. 1999. Juberg-Hayward syndrome: A new case report and clinical delineation of the syndrome. Clin Dysmorphol 8:123-127.
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 123-127
-
-
Kantaputra, P.N.1
Mongkolchaisup, S.2
-
24
-
-
0017240335
-
Symphalangism with metacarpophalangeal fusions and elbow abnormalities
-
Kassner EG, Katz I, Qazi QH. 1976. Symphalangism with metacarpophalangeal fusions and elbow abnormalities. Pediatr Radiol 4:103-107.
-
(1976)
Pediatr Radiol
, vol.4
, pp. 103-107
-
-
Kassner, E.G.1
Katz, I.2
Qazi, Q.H.3
-
25
-
-
0014911469
-
Eine wahrscheinlich autosomal recessive vererbte Skeletmissbildung mit Humeroradialsynostose
-
Keutel J, Kindermann I, Mockel H. 1970. Eine wahrscheinlich autosomal recessive vererbte Skeletmissbildung mit Humeroradialsynostose. Humangenetik 9:43-53.
-
(1970)
Humangenetik
, vol.9
, pp. 43-53
-
-
Keutel, J.1
Kindermann, I.2
Mockel, H.3
-
26
-
-
0030027109
-
Antley-Bixler syndrome: A disorder characterized by congenital synostosis of the elbow joint and the cranial suture
-
Kitoh H, Nogami H, Oki T, Arao K, Nagasaka M, Tanaka Y, Kitoh H. 1996. Antley-Bixler syndrome: A disorder characterized by congenital synostosis of the elbow joint and the cranial suture. J Pediatr Orthopaed 16:243-246.
-
(1996)
J Pediatr Orthopaed
, vol.16
, pp. 243-246
-
-
Kitoh, H.1
Nogami, H.2
Oki, T.3
Arao, K.4
Nagasaka, M.5
Tanaka, Y.6
Kitoh, H.7
-
27
-
-
0027314367
-
FFU complex: An analysis of 491 cases
-
Lenz W, Zygulska M, Horst J. 1993. FFU complex: An analysis of 491 cases. Hum Genet 91:347-356.
-
(1993)
Hum Genet
, vol.91
, pp. 347-356
-
-
Lenz, W.1
Zygulska, M.2
Horst, J.3
-
28
-
-
0025307712
-
Hereditary cranium bifidum and symmetric parietal foramina are the same entity
-
Little BB, Knoll KA, Klein VR, Heller KB. 1990. Hereditary cranium bifidum and symmetric parietal foramina are the same entity. Am J Med Genet 35:453-458.
-
(1990)
Am J Med Genet
, vol.35
, pp. 453-458
-
-
Little, B.B.1
Knoll, K.A.2
Klein, V.R.3
Heller, K.B.4
-
29
-
-
85120515409
-
-
Lorenz P, Rupprecht E, Tellkamp H. 1990. An unusual type of acrocephalosyndactyly with bilateral parietooccipital Encephalocele, micropenis, and severe mental retardation. Am J Med Genet 36:265-268.
-
Lorenz P, Rupprecht E, Tellkamp H. 1990. An unusual type of acrocephalosyndactyly with bilateral parietooccipital "Encephalocele," micropenis, and severe mental retardation. Am J Med Genet 36:265-268.
-
-
-
-
30
-
-
0037216742
-
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure
-
Marles SL, Reed M, Evans JA. 2003. Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure. Am J Med Genet Part A 116A:85-89.
-
(2003)
Am J Med Genet
, vol.116 A
, Issue.PART A
, pp. 85-89
-
-
Marles, S.L.1
Reed, M.2
Evans, J.A.3
-
31
-
-
0035158663
-
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
-
Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO. 2001. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 27:17-18.
-
(2001)
Nat Genet
, vol.27
, pp. 17-18
-
-
Mavrogiannis, L.A.1
Antonopoulou, I.2
Baxova, A.3
Kutilek, S.4
Kim, C.A.5
Sugayama, S.M.6
Salamanca, A.7
Wall, S.A.8
Morriss-Kay, G.M.9
Wilkie, A.O.10
-
32
-
-
20544454118
-
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS
-
Mendoxa-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. 2005. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. Am J Hum Genet 77:161-168.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 161-168
-
-
Mendoxa-Londono, R.1
Lammer, E.2
Watson, R.3
Harper, J.4
Hatamochi, A.5
Hatamochi-Hayashi, S.6
Napierala, D.7
Hermanns, P.8
Collins, S.9
Roa, B.B.10
Hedge, M.R.11
Wakui, K.12
Nguyen, D.13
Stockton, D.W.14
Lee, B.15
-
33
-
-
0027324556
-
Goldston syndrome reconsidered
-
Moerman P, Pauwels P, Vandenberghe K, Lauweryns JM, Fryns JP. 1993. Goldston syndrome reconsidered. Genet Couns 4:97-102.
-
(1993)
Genet Couns
, vol.4
, pp. 97-102
-
-
Moerman, P.1
Pauwels, P.2
Vandenberghe, K.3
Lauweryns, J.M.4
Fryns, J.P.5
-
34
-
-
0023868620
-
The Tel Hashomer Camptodactyly Syndrome: Report of a new case and review of the literature
-
Pagnan NA, Gollop TR, Lederman H. 1988. The Tel Hashomer Camptodactyly Syndrome: Report of a new case and review of the literature. Am J Med Genet 29:411-417.
-
(1988)
Am J Med Genet
, vol.29
, pp. 411-417
-
-
Pagnan, N.A.1
Gollop, T.R.2
Lederman, H.3
-
36
-
-
0029878404
-
Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)
-
Potocki L, Shaffer LG. 1996. Interstitial deletion of 11(p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet 62:319-325.
-
(1996)
Am J Med Genet
, vol.62
, pp. 319-325
-
-
Potocki, L.1
Shaffer, L.G.2
-
37
-
-
0024382875
-
Humero-radial synostosis with ulnar defects in sibs
-
Ramer JC, Ladda RL. 1989. Humero-radial synostosis with ulnar defects in sibs. Am J Med Genet 33:176-179.
-
(1989)
Am J Med Genet
, vol.33
, pp. 176-179
-
-
Ramer, J.C.1
Ladda, R.L.2
-
38
-
-
33847346280
-
Humeroradial/multiple synostosis syndrome in a Brazilian child with consanguineous parents. A new multiple synostosis syndrome?
-
Richieri-Costa A, Pagnan NAB. 1986. Humeroradial/multiple synostosis syndrome in a Brazilian child with consanguineous parents. A new multiple synostosis syndrome? Rev Brasil Genet 9:115-122.
-
(1986)
Rev Brasil Genet
, vol.9
, pp. 115-122
-
-
Richieri-Costa, A.1
Pagnan, N.A.B.2
-
40
-
-
0029985649
-
Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report
-
Sahoo MM, Misra PK, Samal BK. 1996. Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report. Int Orthop 20:117-118.
-
(1996)
Int Orthop
, vol.20
, pp. 117-118
-
-
Sahoo, M.M.1
Misra, P.K.2
Samal, B.K.3
-
41
-
-
0030058202
-
Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: A new syndrome?
-
Samson G, Gardner JC. 1996. Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: A new syndrome?. Am J Med Genet 61:174-177.
-
(1996)
Am J Med Genet
, vol.61
, pp. 174-177
-
-
Samson, G.1
Gardner, J.C.2
-
42
-
-
0018836413
-
A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation
-
Schinzel A. 1980. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. Helv Paediatr Acta 35:243-251.
-
(1980)
Helv Paediatr Acta
, vol.35
, pp. 243-251
-
-
Schinzel, A.1
-
43
-
-
0023820750
-
A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias
-
Schumacher KA, Wolf M, Friedrich JM. 1988. A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias. Rontgenblatter 41:211-214.
-
(1988)
Rontgenblatter
, vol.41
, pp. 211-214
-
-
Schumacher, K.A.1
Wolf, M.2
Friedrich, J.M.3
-
45
-
-
0027394225
-
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation
-
Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F. 1993. Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am J Med Genet 45:581-583.
-
(1993)
Am J Med Genet
, vol.45
, pp. 581-583
-
-
Shaffer, L.G.1
Hecht, J.T.2
Ledbetter, D.H.3
Greenberg, F.4
-
46
-
-
0037111003
-
Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2
-
Shotelersuk V, Ittiwut C, Srivuthana S, Mahatumarat C, Lerdlum S, Wacharasindhu S. 2002. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. Am J Med Genet 113:4-8.
-
(2002)
Am J Med Genet
, vol.113
, pp. 4-8
-
-
Shotelersuk, V.1
Ittiwut, C.2
Srivuthana, S.3
Mahatumarat, C.4
Lerdlum, S.5
Wacharasindhu, S.6
-
47
-
-
0001271060
-
Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino P.G.A.) administered by the oral route
-
Thiersch JB. 1952. Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino P.G.A.) administered by the oral route. Am J Obstet Gynec 63:1298-1304.
-
(1952)
Am J Obstet Gynec
, vol.63
, pp. 1298-1304
-
-
Thiersch, J.B.1
-
48
-
-
0021347101
-
New syndrome: Renal dysplasia, mesomelia, and radiohumeral fusion
-
Ulbright CE, Hodes ME, Ulbright TM. 1984. New syndrome: Renal dysplasia, mesomelia, and radiohumeral fusion. Am J Med Genet 17:667-668.
-
(1984)
Am J Med Genet
, vol.17
, pp. 667-668
-
-
Ulbright, C.E.1
Hodes, M.E.2
Ulbright, T.M.3
-
49
-
-
0027429318
-
Roberts syndrome: A review of 100 cases and a new rating system for severity
-
Van Den Berg DJ, Francke U. 1993. Roberts syndrome: A review of 100 cases and a new rating system for severity. Am J Med Genet 47:1104-1123.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1104-1123
-
-
Van Den Berg, D.J.1
Francke, U.2
-
50
-
-
0020416035
-
Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency
-
Van Gelderen HH. 1982. Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency. Am J Med Genet 13:383-387.
-
(1982)
Am J Med Genet
, vol.13
, pp. 383-387
-
-
Van Gelderen, H.H.1
-
51
-
-
0026598703
-
Acromelic frontonasal 'dysplasia': Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)
-
Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. 1992. Acromelic frontonasal 'dysplasia': Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). Am J Med Genet 42:180-183.
-
(1992)
Am J Med Genet
, vol.42
, pp. 180-183
-
-
Verloes, A.1
Gillerot, Y.2
Walczak, E.3
Van Maldergem, L.4
Koulischer, L.5
-
52
-
-
0034074417
-
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
-
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. 2000. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24:387-390.
-
(2000)
Nat Genet
, vol.24
, pp. 387-390
-
-
Wilkie, A.O.1
Tang, Z.2
Elanko, N.3
Walsh, S.4
Twigg, S.R.5
Hurst, J.A.6
Wall, S.A.7
Chrzanowska, K.H.8
Maxson Jr., R.E.9
-
53
-
-
0034192384
-
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
-
Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W. 2000a. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 9:1251-1255.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1251-1255
-
-
Wuyts, W.1
Reardon, W.2
Preis, S.3
Homfray, T.4
Rasore-Quartino, A.5
Christians, H.6
Willems, P.J.7
Van Hul, W.8
-
54
-
-
0034530307
-
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna. OMIM 168500)
-
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W. 2000b. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna. OMIM 168500). J Med Genet 37:916-920.
-
(2000)
J Med Genet
, vol.37
, pp. 916-920
-
-
Wuyts, W.1
Cleiren, E.2
Homfray, T.3
Rasore-Quartino, A.4
Vanhoenacker, F.5
Van Hul, W.6
-
55
-
-
0022140904
-
Parietal foramina in the Saethre-Chotzen syndrome
-
Young ID, Swift PG. 1985. Parietal foramina in the Saethre-Chotzen syndrome. J Med Genet 22:413-414.
-
(1985)
J Med Genet
, vol.22
, pp. 413-414
-
-
Young, I.D.1
Swift, P.G.2
|