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Article

[Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011

Zhang Qiong, Jiang Hai-ou, Quan Qing-li, Li Jun, He Ting, Huang Xue-shuang

Abstract excerpt

OBJECTIVE: To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis. METHODS: Five patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain...

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Identifiers

PMID: 22161110
DOI: 10.3760/cma.j.issn.1003-9406.2011.06.024

Genes

FGFR3

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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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