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Article

A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia.

BMC medical genetics - 7 Feb 2017

Xu Wen'an, Chen Qiuyue, Liu Cuixian, Chen Jiajing, Xiong Fu, Wu Buling

Abstract excerpt

BACKGROUND: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. METHODS: Genomic DNA extracted from peripheral venous blood was taken from the proband, her parents and 3 siblings, and 150 normal...

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Identifiers

PMID: 28173761
DOI: 10.1186/s12881-017-0375-x
PMCID: PMC5297198

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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