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Article

Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.

Medicine - 12 Nov 2021

Yang Liyuan, Lu Genqi, Shen Wenjing, Chen Wenjing, Lu Haiyan, Zhang Guozhong, Yuan Shuo, Zheng Shushen, Ren Jiabao

Abstract excerpt

ABSTRACT: Cleidocranial dysplasia (CCD) is mainly attributable to a variant of runt-related transcription factor 2 (RUNX2) on chromosome 6p21. CCD is an autosomal dominant skeletal disorder characterized by open/delayed closure of fontanels, clavicular hypoplasia, retention of deciduous teeth, and supernumerary permanent teeth. The aim of this study was to investigate potentially pathogenic mutations in 2 Chinese...

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Identifiers

PMID: 34766588
DOI: 10.1097/MD.0000000000027746
PMCID: PMC8589230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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