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Article

[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].

Rinsho byori. The Japanese journal of clinical pathology - 1 May 1996

Ishigaki M, Wada C, Toyo-oka Y, Yamabe H, Ohnuki Y, Takada F, Yamazaki Y, Ohtani H

Abstract excerpt

Craniofacial syndromes, including Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Apert syndrome and achondroplasia, have been indicated that syndromes were associated with mutations of fibroblast growth factor receptor (FGFR) gene families. In this report, seven Japanese patients with craniofacial syndromes, three Crouzon syndromes and four achondroplasias, were analyzed on FGFR2 and FGFR3 genes by...

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Source

Identifiers

PMID: 8676563

Genes

FGFR2
FGFR3

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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