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Article

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.

Chinese medical journal - 20 Jan 2017

Qin Xue-Yan, Jia Pei-Zeng, Zhao Hua-Xiang, Li Wei-Ran, Chen Feng, Lin Jiu-Xiang

Abstract excerpt

BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related...

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Identifiers

PMID: 28091408
DOI: 10.4103/0366-6999.197996
PMCID: PMC5282673

Genes

RUNX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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