Article
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Nature genetics - 1 Nov 1994
Jabs E W, Li X, Scott A F, Meyers G, Chen W, Eccles M, Mao J I, Charnas L R, Jackson C E, Jaye M
Abstract excerpt
Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGF...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Consensus Sequence
- Craniofacial Dysostosis
- Craniosynostoses
- DNA Mutational Analysis
- Female
- Foot Deformities, Congenital
- Genes
- Hand Deformities, Congenital
- Humans
- Male