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Article

Dysregulation of chondrogenesis in human cleidocranial dysplasia.

American journal of human genetics - 1 Aug 2005

Zheng Qiping, Sebald Eiman, Zhou Guang, Chen Yuqing, Wilcox William, Lee Brendan, Krakow Deborah

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2. The disorder is characterized by delayed closure of the fontanel and hypoplastic clavicles that result from defective intramembranous ossification. However, additional features, such as short stature and cone epiphyses, also suggest an underlying defect in endochondral ossification....

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15952089
DOI: 10.1086/432261
PMCID: PMC1224532

Genes

RUNX2
MMP13

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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