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Article

Novel RUNX2 frameshift mutations in Chinese patients with cleidocranial dysplasia.

European journal of oral sciences - 1 Jun 2013

Huang Yanyu, Song Yaling, Zhang Chenzheng, Chen Guoxin, Wang Shihua, Bian Zhuan

Abstract excerpt

Cleidocranial dysplasia (CCD) is a skeletal disorder caused by heterozygous mutations in the runt-related transcription factor 2 (RUNX2) gene. We evaluated the phenotypes of eight Chinese patients with CCD from three unrelated families followed by analysis of the RUNX2 genes. Three different RUNX2 frameshift mutations were identified. Two of the mutations are novel (c.887insC and c.592delA) and one (c.90insC) has...

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Identifiers

PMID: 23659235
DOI: 10.1111/eos.12048

Genes

RUNX2

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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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