메뉴 건너뛰기




Volumn 24, Issue 1, 2013, Pages 150-152

FGFR1 and FGFR2 mutations in pfeiffer syndrome

Author keywords

FGFR1; FGFR2; mutations; Pfeiffer syndrome

Indexed keywords

FGFR1 PROTEIN, HUMAN; FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

EID: 84873281523     PISSN: 10492275     EISSN: 15363732     Source Type: Journal    
DOI: 10.1097/SCS.0b013e3182646454     Document Type: Article
Times cited : (24)

References (16)
  • 1
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
    • DOI 10.1002/ajmg.1320450305
    • Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-307 (Pubitemid 23033144)
    • (1993) American Journal of Medical Genetics , vol.45 , Issue.3 , pp. 300-307
    • Cohen Jr., M.M.1
  • 3
    • 0029109137 scopus 로고
    • Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
    • Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995;9:173-176
    • (1995) Nat Genet , vol.9 , pp. 173-176
    • Rutland, P.1    Pulleyn, L.J.2    Reardon, W.3
  • 4
    • 0032992570 scopus 로고    scopus 로고
    • Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
    • DOI 10.1007/s004390050979
    • Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999;104:425-431 (Pubitemid 29286801)
    • (1999) Human Genetics , vol.104 , Issue.5 , pp. 425-431
    • Cornejo-Roldan, L.R.1    Roessler, E.2    Muenke, M.3
  • 7
    • 18144430766 scopus 로고    scopus 로고
    • Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
    • Zankl A, Jaeger G, Bonafe L, et al. Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. Am J Med Genet A 2004;131:299-300
    • (2004) Am J Med Genet A , vol.131 , pp. 299-300
    • Zankl, A.1    Jaeger, G.2    Bonafe, L.3
  • 8
    • 79951757204 scopus 로고    scopus 로고
    • A case of Pfeiffer syndrome with c833-834GC9TG (Cys278Leu) mutation in the FGFR2 gene
    • Lee MY, Jeon GW, Jung JM, et al. A case of Pfeiffer syndrome with c833-834GC9TG (Cys278Leu) mutation in the FGFR2 gene. Korean J Pediatr 2010;53:774-777
    • (2010) Korean J Pediatr , vol.53 , pp. 774-777
    • Lee, M.Y.1    Jeon, G.W.2    Jung, J.M.3
  • 12
    • 84862025814 scopus 로고    scopus 로고
    • FGFR2 mutations among Thai children with Crouzon and Apert syndromes
    • discussion 105-107
    • Shotelersuk V, Mahatumarat C, Ittiwut C, et al. FGFR2 mutations among Thai children with Crouzon and Apert syndromes. J Craniofac Surg 2003;14:101-104; discussion 105-107
    • (2003) J Craniofac Surg , vol.14 , pp. 101-104
    • Shotelersuk, V.1    Mahatumarat, C.2    Ittiwut, C.3
  • 14
    • 0142043966 scopus 로고    scopus 로고
    • The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation
    • DOI 10.1097/00019605-200310000-00012
    • Rossi M, Jones RL, Norbury G, et al. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. Clin Dysmorphol 2003;12:269-274 (Pubitemid 37267194)
    • (2003) Clinical Dysmorphology , vol.12 , Issue.4 , pp. 269-274
    • Rossi, M.1    Jones, R.L.2    Norbury, G.3    Bloch-Zupan, A.4    Winter, R.M.5
  • 16
    • 33645144263 scopus 로고    scopus 로고
    • Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
    • Lajeunie E, Heuertz S, El Ghouzzi V, et al. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 2006;14:289-298
    • (2006) Eur J Hum Genet , vol.14 , pp. 289-298
    • Lajeunie, E.1    Heuertz, S.2    El Ghouzzi, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.