Article
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Human molecular genetics - 1 Jul 1995
Park W J, Meyers G A, Li X, Theda C, Day D, Orlow S J, Jones M C, Jabs E W
Abstract excerpt
Mutations have been reported for several craniosynostotic disorders in exon IIIa (exon U or 7) or IIIc (exon B or 9) of the fibroblast growth factor receptor 2 gene (FGFR2). Among the conditions with FGFR2 mutations are two autosomal dominant syndromes, Crouzon and Jackson-Weiss. In this study, 2...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Craniofacial Dysostosis
- Craniosynostoses
- Exons
- Female
- Genetic Heterogeneity
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor
- Syndrome