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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 linker region between immunoglobulin-like domains II and III, which are involved in activation of the receptor by ligand...

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Source

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Identifiers

PMID: 7668257
PMCID: PMC1801532

Genes

FGFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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