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Article

[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia].

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

Gao Chao, Wu Li, Geng Xiang-ju, Song Li-jia, Luo Qiang

Abstract excerpt

OBJECTIVE: To identify the RUNX2 gene mutation in two unrelated Chinese families with cleidocranial dysplasia (CCD), and to assess the feasibility of gene diagnosis for patients with CCD. METHODS: Genomic DNA was isolated from peripheral blood samples of 4 patients and 4 healthy members in the two pedigrees as well as 102 unrelated healthy controls. All 7 coding exons and their flanking intronic sequences of the...

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Source

Identifiers

PMID: 20376792
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.005

Genes

RUNX2

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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