Clinical spectrum of fibroblast growth factor receptor mutations

Clinical spectrum of fibroblast growth factor receptor mutations

Author Passos-Bueno, M. R. Google Scholar
Wilcox, W. R. Google Scholar
Jabs, E. W. Google Scholar
Sertie, A. L. Google Scholar
Alonso, Luis Garcia Autor UNIFESP Google Scholar
Kitoh, H. Google Scholar
Institution Universidade de São Paulo (USP)
Univ Calif Los Angeles
Johns Hopkins Hosp
Universidade Federal de São Paulo (UNIFESP)
Aichi Prefectural Colony
Abstract During the last few years, it has been demonstrated that some syndromic craniosynostosis and short limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3), The present review list all mutations described to date in these three genes and the phenotypes associated with them, Tn addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions. Hum Mutat 14:115-125, 1999, (C) 1999 Wiley-Liss, Inc.
Keywords FGFR1
platyspondylic lethal skeletal dysplasia
thanatophoric dysplasia
Antley-Bixtley syndrome
Apert syndrome
Beare-Stevenson syndrome
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Saethre-Chotzen syndrome
Language English
Date 1999-01-01
Published in Human Mutation. New York: Wiley-liss, v. 14, n. 2, p. 115-125, 1999.
ISSN 1059-7794 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 115-125
Access rights Closed access
Type Review
Web of Science ID WOS:000081710900003

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