메뉴 건너뛰기




Volumn 137, Issue 3, 2016, Pages 952-961

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

Author keywords

[No Author keywords available]

Indexed keywords

FGFR1 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 1; NUCLEAR PROTEIN; TWIST RELATED PROTEIN 1; TWIST1 PROTEIN, HUMAN;

EID: 84959275723     PISSN: 00321052     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.prs.0000479978.75545.ee     Document Type: Conference Paper
Times cited : (22)

References (53)
  • 1
    • 85006071130 scopus 로고    scopus 로고
    • Closing the gap: Genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses
    • Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW, Closing the gap: Genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses. Curr Genet Med Rep 2014 2 135 145
    • (2014) Curr Genet Med Rep , vol.2 , pp. 135-145
    • Heuzé, Y.1    Holmes, G.2    Peter, I.3    Richtsmeier, J.T.4    Jabs, E.W.5
  • 2
    • 0036716579 scopus 로고    scopus 로고
    • Genetic and environmental risk factors for sagittal craniosynostosis
    • Zeiger JS, Beaty TH, Hetmanski JB, Genetic and environmental risk factors for sagittal craniosynostosis. J Craniofac Surg 2002 13 602 606
    • (2002) J Craniofac Surg , vol.13 , pp. 602-606
    • Zeiger, J.S.1    Beaty, T.H.2    Hetmanski, J.B.3
  • 4
    • 85006807070 scopus 로고    scopus 로고
    • Operative management of non-syndromic sagittal craniosynostosis: A head-to-head meta-analysis of outcomes comparing three techniques
    • Gerety P, Basta MN, Fischer JP, Taylor JA, Bartlett SP, Operative management of non-syndromic sagittal craniosynostosis: A head-to-head meta-analysis of outcomes comparing three techniques. Plast Reconstr Surg 2014 134 23 24
    • (2014) Plast Reconstr Surg , vol.134 , pp. 23-24
    • Gerety, P.1    Basta, M.N.2    Fischer, J.P.3    Taylor, J.A.4    Bartlett, S.P.5
  • 6
    • 0344069730 scopus 로고    scopus 로고
    • Maternal smoking and craniosynostosis
    • Källén K, Maternal smoking and craniosynostosis. Teratology 1999 60 146 150
    • (1999) Teratology , vol.60 , pp. 146-150
    • Källén, K.1
  • 8
    • 84890693713 scopus 로고    scopus 로고
    • Aortic aneurysm and craniosynostosis in a family with Cantu syndrome
    • Hiraki Y, Miyatake S, Hayashidani M, Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Am J Med Genet A 2014 164 231 236
    • (2014) Am J Med Genet A , vol.164 , pp. 231-236
    • Hiraki, Y.1    Miyatake, S.2    Hayashidani, M.3
  • 10
    • 84890449733 scopus 로고    scopus 로고
    • Craniosynostosis: A previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome)
    • Searle C, Jewell R, Kraft J, Craniosynostosis: A previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). Clin Dysmorphol 2014 23 12 15
    • (2014) Clin Dysmorphol , vol.23 , pp. 12-15
    • Searle, C.1    Jewell, R.2    Kraft, J.3
  • 11
    • 60549093755 scopus 로고    scopus 로고
    • Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia
    • Simpson MA, Scheuerle A, Hurst J, Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet 2009 75 271 276
    • (2009) Clin Genet , vol.75 , pp. 271-276
    • Simpson, M.A.1    Scheuerle, A.2    Hurst, J.3
  • 12
    • 30144438033 scopus 로고    scopus 로고
    • Molecular pathology of Shprintzen-Goldberg syndrome
    • author reply 109-110
    • Kosaki K, Takahashi D, Udaka T, Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006 140 104 108. author reply 109-110.
    • (2006) Am J Med Genet A , vol.140 , pp. 104-108
    • Kosaki, K.1    Takahashi, D.2    Udaka, T.3
  • 13
    • 34547623601 scopus 로고    scopus 로고
    • An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
    • Jehee FS, Bertola DR, Yelavarthi KK, An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am J Med Genet A 2007 143 1912 1918
    • (2007) Am J Med Genet A , vol.143 , pp. 1912-1918
    • Jehee, F.S.1    Bertola, D.R.2    Yelavarthi, K.K.3
  • 14
    • 19944430581 scopus 로고    scopus 로고
    • Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
    • White KE, Cabral JM, Davis SI, Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 2005 76 361 367
    • (2005) Am J Hum Genet , vol.76 , pp. 361-367
    • White, K.E.1    Cabral, J.M.2    Davis, S.I.3
  • 15
    • 84864044307 scopus 로고    scopus 로고
    • Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis
    • Sharma VP, Wall SA, Lord H, Lester T, Wilkie AO, Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. Cleft Palate Craniofac J 2012 49 373 377
    • (2012) Cleft Palate Craniofac J , vol.49 , pp. 373-377
    • Sharma, V.P.1    Wall, S.A.2    Lord, H.3    Lester, T.4    Wilkie, A.O.5
  • 16
    • 84886309237 scopus 로고    scopus 로고
    • Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients
    • Roscioli T, Elakis G, Cox TC, Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C Semin Med Genet 2013 163C 259 270
    • (2013) Am J Med Genet C Semin Med Genet , vol.163 , pp. 259-270
    • Roscioli, T.1    Elakis, G.2    Cox, T.C.3
  • 17
    • 23744461534 scopus 로고    scopus 로고
    • Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
    • McGillivray G, Savarirayan R, Cox TC, Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet 2005 42 656 662
    • (2005) J Med Genet , vol.42 , pp. 656-662
    • McGillivray, G.1    Savarirayan, R.2    Cox, T.C.3
  • 18
    • 0028872752 scopus 로고
    • Thanatophoric dysplasia (types i and II) caused by distinct mutations in fibroblast growth factor receptor 3
    • Tavormina PL, Shiang R, Thompson LM, Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995 9 321 328
    • (1995) Nat Genet , vol.9 , pp. 321-328
    • Tavormina, P.L.1    Shiang, R.2    Thompson, L.M.3
  • 19
    • 79959277963 scopus 로고    scopus 로고
    • Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: Five cases with intragenic mutations or complete deletions of GLI3
    • Hurst JA, Jenkins D, Vasudevan PC, Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: Five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet 2011 19 757 762
    • (2011) Eur J Hum Genet , vol.19 , pp. 757-762
    • Hurst, J.A.1    Jenkins, D.2    Vasudevan, P.C.3
  • 20
    • 77953120200 scopus 로고    scopus 로고
    • Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
    • Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 2010 86 949 956
    • (2010) Am J Hum Genet , vol.86 , pp. 949-956
    • Walczak-Sztulpa, J.1    Eggenschwiler, J.2    Osborn, D.3
  • 21
    • 79958047884 scopus 로고    scopus 로고
    • C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
    • Arts HH, Bongers EM, Mans DA, C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet 2011 48 390 395
    • (2011) J Med Genet , vol.48 , pp. 390-395
    • Arts, H.H.1    Bongers, E.M.2    Mans, D.A.3
  • 22
    • 78650911222 scopus 로고    scopus 로고
    • Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
    • Klopocki E, Lohan S, Brancati F, Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 2011 88 70 75
    • (2011) Am J Hum Genet , vol.88 , pp. 70-75
    • Klopocki, E.1    Lohan, S.2    Brancati, F.3
  • 23
    • 80051547705 scopus 로고    scopus 로고
    • Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth
    • Nieminen P, Morgan NV, Fenwick AL, Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet 2011 89 67 81
    • (2011) Am J Hum Genet , vol.89 , pp. 67-81
    • Nieminen, P.1    Morgan, N.V.2    Fenwick, A.L.3
  • 24
    • 0036808813 scopus 로고    scopus 로고
    • Craniosynostosis in Alagille syndrome
    • Kamath BM, Stolle C, Bason L, Craniosynostosis in Alagille syndrome. Am J Med Genet 2002 112 176 180
    • (2002) Am J Med Genet , vol.112 , pp. 176-180
    • Kamath, B.M.1    Stolle, C.2    Bason, L.3
  • 25
    • 84868457351 scopus 로고    scopus 로고
    • Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
    • Twigg SR, Lloyd D, Jenkins D, Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. Am J Hum Genet 2012 91 897 905
    • (2012) Am J Hum Genet , vol.91 , pp. 897-905
    • Twigg, S.R.1    Lloyd, D.2    Jenkins, D.3
  • 26
    • 0027431005 scopus 로고
    • A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
    • Jabs EW, Müller U, Li X, A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993 75 443 450
    • (1993) Cell , vol.75 , pp. 443-450
    • Jabs, E.W.1    Müller, U.2    Li, X.3
  • 27
    • 84878465939 scopus 로고    scopus 로고
    • Infantile osteopetrosis, craniosynostosis, and Chiari malformation type i with novel OSTEM1 mutation
    • Mahmoud Adel AH, Abdullah AA, Eissa F, Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation. J Pediatr Neurosci 2013 8 34 37
    • (2013) J Pediatr Neurosci , vol.8 , pp. 34-37
    • Mahmoud Adel, A.H.1    Abdullah, A.A.2    Eissa, F.3
  • 29
    • 34250009169 scopus 로고    scopus 로고
    • RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
    • Jenkins D, Seelow D, Jehee FS, RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 2007 80 1162 1170
    • (2007) Am J Hum Genet , vol.80 , pp. 1162-1170
    • Jenkins, D.1    Seelow, D.2    Jehee, F.S.3
  • 30
    • 84868572132 scopus 로고    scopus 로고
    • Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
    • Bendon CL, Fenwick AL, Hurst JA, Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet 2012 13 104
    • (2012) BMC Med Genet , vol.13 , pp. 104
    • Bendon, C.L.1    Fenwick, A.L.2    Hurst, J.A.3
  • 31
    • 84911367217 scopus 로고    scopus 로고
    • Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways
    • Takenouchi T, Sakamoto Y, Miwa T, Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways. Am J Med Genet A 2014 164 2869 2872
    • (2014) Am J Med Genet A , vol.164 , pp. 2869-2872
    • Takenouchi, T.1    Sakamoto, Y.2    Miwa, T.3
  • 32
    • 84868498164 scopus 로고    scopus 로고
    • In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
    • Carmignac V, Thevenon J, Adès L, In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 2012 91 950 957
    • (2012) Am J Hum Genet , vol.91 , pp. 950-957
    • Carmignac, V.1    Thevenon, J.2    Adès, L.3
  • 33
    • 20144367207 scopus 로고    scopus 로고
    • A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
    • Loeys BL, Chen J, Neptune ER, A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005 37 275 281
    • (2005) Nat Genet , vol.37 , pp. 275-281
    • Loeys, B.L.1    Chen, J.2    Neptune, E.R.3
  • 34
    • 80955166295 scopus 로고    scopus 로고
    • Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
    • Bredrup C, Saunier S, Oud MM, Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011 89 634 643
    • (2011) Am J Hum Genet , vol.89 , pp. 634-643
    • Bredrup, C.1    Saunier, S.2    Oud, M.M.3
  • 35
    • 77956393882 scopus 로고    scopus 로고
    • Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
    • Gilissen C, Arts HH, Hoischen A, Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010 87 418 423
    • (2010) Am J Hum Genet , vol.87 , pp. 418-423
    • Gilissen, C.1    Arts, H.H.2    Hoischen, A.3
  • 36
    • 78649677069 scopus 로고    scopus 로고
    • Genetic basis of potential therapeutic strategies for craniosynostosis
    • Melville H, Wang Y, Taub PJ, Jabs EW, Genetic basis of potential therapeutic strategies for craniosynostosis. Am J Med Genet A 2010 152 3007 3015
    • (2010) Am J Med Genet A , vol.152 , pp. 3007-3015
    • Melville, H.1    Wang, Y.2    Taub, P.J.3    Jabs, E.W.4
  • 37
    • 84869083654 scopus 로고    scopus 로고
    • ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
    • Yagnik G, Ghuman A, Kim S, ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat 2012 33 1626 1629
    • (2012) Hum Mutat , vol.33 , pp. 1626-1629
    • Yagnik, G.1    Ghuman, A.2    Kim, S.3
  • 38
    • 84874583377 scopus 로고    scopus 로고
    • Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
    • Twigg SR, Vorgia E, McGowan SJ, Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet 2013 45 308 313
    • (2013) Nat Genet , vol.45 , pp. 308-313
    • Twigg, S.R.1    Vorgia, E.2    McGowan, S.J.3
  • 39
    • 34247256382 scopus 로고    scopus 로고
    • Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations
    • Seto ML, Hing AV, Chang J, Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A 2007 143 678 686
    • (2007) Am J Med Genet A , vol.143 , pp. 678-686
    • Seto, M.L.1    Hing, A.V.2    Chang, J.3
  • 40
    • 77955481154 scopus 로고    scopus 로고
    • Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis
    • Wilkie AO, Byren JC, Hurst JA, Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 2010 126 e391 e400
    • (2010) Pediatrics , vol.126 , pp. e391-e400
    • Wilkie, A.O.1    Byren, J.C.2    Hurst, J.A.3
  • 41
    • 34547642377 scopus 로고    scopus 로고
    • Clinical dividends from the molecular genetic diagnosis of craniosynostosis
    • Wilkie AO, Bochukova EG, Hansen RM, Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A 2007 143 1941 1949
    • (2007) Am J Med Genet A , vol.143 , pp. 1941-1949
    • Wilkie, A.O.1    Bochukova, E.G.2    Hansen, R.M.3
  • 42
    • 84870506995 scopus 로고    scopus 로고
    • A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
    • Justice CM, Yagnik G, Kim Y, A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet 2012 44 1360 1364
    • (2012) Nat Genet , vol.44 , pp. 1360-1364
    • Justice, C.M.1    Yagnik, G.2    Kim, Y.3
  • 43
    • 81955164146 scopus 로고    scopus 로고
    • Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr
    • Barroso E, Pérez-Carrizosa V, García-Recuero I, Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Am J Med Genet A 2011 155 3050 3053
    • (2011) Am J Med Genet A , vol.155 , pp. 3050-3053
    • Barroso, E.1    Pérez-Carrizosa, V.2    García-Recuero, I.3
  • 44
    • 78650656890 scopus 로고    scopus 로고
    • IGF1R variants associated with isolated single suture craniosynostosis
    • Cunningham ML, Horst JA, Rieder MJ, IGF1R variants associated with isolated single suture craniosynostosis. Am J Med Genet A 2011 155 91 97
    • (2011) Am J Med Genet A , vol.155 , pp. 91-97
    • Cunningham, M.L.1    Horst, J.A.2    Rieder, M.J.3
  • 45
    • 84861191577 scopus 로고    scopus 로고
    • Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1
    • Kim SD, Liu JL, Roscioli T, Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1. FEBS Lett 2012 586 1516 1521
    • (2012) FEBS Lett , vol.586 , pp. 1516-1521
    • Kim, S.D.1    Liu, J.L.2    Roscioli, T.3
  • 46
    • 33745277079 scopus 로고    scopus 로고
    • Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region
    • Tagariello A, Heller R, Greven A, Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region. J Med Genet 2006 43 534 540
    • (2006) J Med Genet , vol.43 , pp. 534-540
    • Tagariello, A.1    Heller, R.2    Greven, A.3
  • 47
    • 29644443643 scopus 로고    scopus 로고
    • Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: Functional differentiation from Muenke coronal synostosis syndrome
    • Kress W, Schropp C, Lieb G, Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: Functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 2006 14 39 48
    • (2006) Eur J Hum Genet , vol.14 , pp. 39-48
    • Kress, W.1    Schropp, C.2    Lieb, G.3
  • 48
    • 34247106754 scopus 로고    scopus 로고
    • Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis
    • Anderson PJ, Cox TC, Roscioli T, Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. J Craniofac Surg 2007 18 312 314
    • (2007) J Craniofac Surg , vol.18 , pp. 312-314
    • Anderson, P.J.1    Cox, T.C.2    Roscioli, T.3
  • 49
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: Application to cancer genomics
    • Reva B, Antipin Y, Sander C, Predicting the functional impact of protein mutations: Application to cancer genomics. Nucleic Acids Res 2011 39 e118
    • (2011) Nucleic Acids Res , vol.39 , pp. e118
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 50
    • 0030753595 scopus 로고    scopus 로고
    • The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
    • Rose CS, Patel P, Reardon W, Malcolm S, Winter RM, The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet 1997 6 1369 1373
    • (1997) Hum Mol Genet , vol.6 , pp. 1369-1373
    • Rose, C.S.1    Patel, P.2    Reardon, W.3    Malcolm, S.4    Winter, R.M.5
  • 51
    • 77955276209 scopus 로고    scopus 로고
    • Differential activation of canonical Wnt signaling determines cranial sutures fate: A novel mechanism for sagittal suture craniosynostosis
    • Behr B, Longaker MT, Quarto N, Differential activation of canonical Wnt signaling determines cranial sutures fate: A novel mechanism for sagittal suture craniosynostosis. Dev Biol 2010 344 922 940
    • (2010) Dev Biol , vol.344 , pp. 922-940
    • Behr, B.1    Longaker, M.T.2    Quarto, N.3
  • 52
    • 0034485778 scopus 로고    scopus 로고
    • An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly
    • Kress W, Petersen B, Collmann H, Grimm T, An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet 2000 91 138 140
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 138-140
    • Kress, W.1    Petersen, B.2    Collmann, H.3    Grimm, T.4
  • 53
    • 0036794918 scopus 로고    scopus 로고
    • Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis
    • Schindler S, Friedrich M, Wagener H, Lorenz B, Preising MN, Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis. J Med Genet 2002 39 764 766
    • (2002) J Med Genet , vol.39 , pp. 764-766
    • Schindler, S.1    Friedrich, M.2    Wagener, H.3    Lorenz, B.4    Preising, M.N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.