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Article

Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.

Molecular vision - 1 Jan 2012

Lin Ying, Ai Siming, Chen Chuan, Liu Xialin, Luo Lixia, Ye Shaobi, Liang Xuanwei, Zhu Yi, Yang Huasheng, Liu Yizhi

Abstract excerpt

PURPOSE: The purpose of this study was to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in three Chinese patients with Crouzon syndrome and to characterize the related clinical features. METHODS: A single family underwent complete ophthalmic examinations, and three patients were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood collected from members...

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Identifiers

PMID: 22665975
PMCID: PMC3365130

Genes

FGFR2

Variants

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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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