Article
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
Human genetics - 1 Dec 1995
Ma H W, Lajeunie E, Le Merrer M, de Parseval N, Serville F, Weissenbach J, Munnich A, Renier D
Abstract excerpt
Crouzon craniofacial dysostosis (CFD) is an autosomal dominant form of craniosynostosis characterized by an abnormal skull shape, with hypertelorism, prominent eyes and midfacial retrusion. Recently, a gene for CFD has been mapped to chromosome 10q25-q26 and mutations in exon B of the fibroblast...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Codon
- Craniofacial Dysostosis
- Exons
- Family
- Female
- France
- Genes, Dominant
- Genetic Linkage
- Genotype
- Humans
- Male
- Pedigree
- Point Mutation
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor