Article
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
Human molecular genetics - 1 Aug 1995
Gorry M C, Preston R A, White G J, Zhang Y, Singhal V K, Losken H W, Parker M G, Nwokoro N A, Post J C, Ehrlich G D
Abstract excerpt
Dominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. These data suggest that the genetics of the craniosynostosis syndromes is more complex than would be expected from their simple autosomal-dominant inheritance pattern....
Topics
- Base Sequence
- Craniofacial Dysostosis
- DNA Primers
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Point Mutation