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Article

Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group.

American journal of medical genetics. Part A - 1 Dec 2005

Baumert Uwe, Golan Ilan, Redlich Meir, Aknin Jean-Jacques, Muessig Dieter

Abstract excerpt

Cleidocranial dysplasia (CCD) (OMIM 119600) is a rare dysplasia of osseous and dental tissue. Characteristic features are typical facial and dental appearance plus morphologic anomalies. RUNX2 (OMIM 600211), the responsible gene for CCD, is considered to be a master gene for bone development and bone homeostasis. This study describes the genotype-phenotype correlation based on craniofacial features involving an...

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Identifiers

PMID: 16222673
DOI: 10.1002/ajmg.a.30927

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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