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Volumn 80, Issue 3, 1998, Pages 260-262

Thanatophoric dysplasia type I with syndactyly

Author keywords

Fibroblast growth factor receptor 3, syndactyly; Thanatophoric dysplasia type I

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

EID: 0031726960     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981116)80:3<260::AID-AJMG15>3.0.CO;2-S     Document Type: Article
Times cited : (13)

References (13)
  • 1
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    • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    • Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M (1996): Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176.
    • (1996) Nat Genet , vol.14 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6    Muenke, M.7
  • 2
    • 0030485182 scopus 로고    scopus 로고
    • Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
    • Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P (1996): Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. Acta Paediatr 417:33-38.
    • (1996) Acta Paediatr , vol.417 , pp. 33-38
    • Bonaventure, J.1    Rousseau, F.2    Legeai-Mallet, L.3    Le Merrer, M.4    Munnich, A.5    Maroteaux, P.6
  • 3
    • 0029026419 scopus 로고
    • Hands and feet in the Apert syndrome
    • Cohen MM, Kreiborg S (1995): Hands and feet in the Apert syndrome. Am J Med Genet 57:82-96.
    • (1995) Am J Med Genet , vol.57 , pp. 82-96
    • Cohen, M.M.1    Kreiborg, S.2
  • 4
    • 0029831470 scopus 로고    scopus 로고
    • Role of TGF beta and BMPs as signals controlling the position of the digits and the areas of interdigital cell death in the developing chick limb autopod
    • Ganan Y, Macias D, Duterque-Coquillaud M, Ros MA, Hurle JM (1996): Role of TGF beta and BMPs as signals controlling the position of the digits and the areas of interdigital cell death in the developing chick limb autopod. Development 122:2349-2357
    • (1996) Development , vol.122 , pp. 2349-2357
    • Ganan, Y.1    Macias, D.2    Duterque-Coquillaud, M.3    Ros, M.A.4    Hurle, J.M.5
  • 7
    • 0028793472 scopus 로고
    • Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
    • Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW (1995): Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462-464.
    • (1995) Nat Genet , vol.11 , pp. 462-464
    • Meyers, G.A.1    Orlow, S.J.2    Munro, I.R.3    Przylepa, K.A.4    Jabs, E.W.5
  • 13
    • 0030769180 scopus 로고    scopus 로고
    • Craniosynostosis: Genes and mechanisms
    • Wilkie AOM (1997): Craniosynostosis: genes and mechanisms. Hum Mol Genet 6:1647-1656.
    • (1997) Hum Mol Genet , vol.6 , pp. 1647-1656
    • Wilkie, A.O.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.