Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Author:

Golla A,Lichmer P,von Gernet S,Winterpacht A,Fairley J,Murken J,Schuffenhauer S

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome;Schell, U.; Hehr, A.; Feldman, G.J.;Hum Mol Genet,1995

2. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome;Muenke, M.; Schell, U.; Hehr, A.;Nat Genet,1994

3. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2;Jabs, E.W.; Li, X.; Scott, A.F.,1994

4. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome;Reardon, W.; Winter, R.M.; Rutland, P.; Pulleyn, L.J.; Jones, B.M.; Malcolm, S.;Nat Genet,1994

5. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome;Wilkie, A.O.M.; Slaney, S.F.; Oldridge, M.;Nat Genet,1995

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1. Muenke Syndrome: Variable Expressivity between Family Members;Journal of Diagnostics and Treatment of Oral and Maxillofacial Pathology;2019-02-28

2. Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes;The Cleft Palate-Craniofacial Journal;2018-03-21

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