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. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.
Original language | English (US) |
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Pages (from-to) | 115-125 |
Number of pages | 11 |
Journal | Human Mutation |
Volume | 14 |
Issue number | 2 |
DOIs | |
State | Published - 1999 |
Keywords
- Achondroplasia
- Antley-Bixtley syndrome
- Apert syndrome
- Beare-Stevenson syndrome
- Craniosynostosis
- Crouzon syndrome
- FGFR1
- FGFR2
- FGFR3
- Hypochondroplasia
- Jackson- Weiss syndrome
- Pfeiffer syndrome
- Platyspon dylic lethal skeletal dysplasia
- Saethre-Chotzen syndrome
- Thanatophoric dysplasia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)