Article
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Human genetics - 1 Nov 1997
Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia P A
Abstract excerpt
Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGF...
Topics
- Acrocephalosyndactylia
- Bone Development
- Child
- Child, Preschool
- Craniofacial Dysostosis
- Craniosynostoses
- DNA Mutational Analysis
- Exons
- Female
- Foot Deformities, Congenital
- Humans
- Phenotype
- Point Mutation
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor