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[FGFR2 gene mutation in a Chinese patient with Apert syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Dai Li, Li Na-na, Yuan Yu-mei, Liu Yong, Zhu Jun

Abstract excerpt

OBJECTIVE: To determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS). METHODS: Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally. RESULTS: A heterozygous 934C to G...

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Identifiers

PMID: 21154333
DOI: 10.3760/cma.j.issn.1003-9406.2010.06.018

Genes

FGFR2

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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