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Article

Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.

Plastic and reconstructive surgery - 1 Feb 1998

Matsumoto K, Urano Y, Kubo Y, Nakanishi H, Arase S

Abstract excerpt

Apert syndrome is a clinically distinctive condition characterized by craniosynostosis, mid-face hypoplasia, and severe symmetrical syndactyly of the hands and feet. Recently, mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Mutations detected in Crouzon, Jackson-Weiss,...

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Source

Identifiers

PMID: 9462761
DOI: 10.1097/00006534-199802000-00007

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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