Article
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
American journal of human genetics - 1 Aug 1995
Park W J, Theda C, Maestri N E, Meyers G A, Fryburg J S, Dufresne C, Cohen M M, Jabs E W
Abstract excerpt
A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26%, for the mutations S252W and P253R, respectively. These mutations occur in the linke...
Topics
- Acrocephalosyndactylia
- Adolescent
- Amino Acid Sequence
- Child
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Phenotype