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Article

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Human mutation - 1 Mar 2002

Otto Florian, Kanegane Hirokazu, Mundlos Stefan

Abstract excerpt

Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus for this disease was mapped to chromosome 6p21. RUNX2 is a member of the runt family of transcription factors and its expression is restricted to...

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Source

Identifiers

PMID: 11857736
DOI: 10.1002/humu.10043

Genes

RUNX2
CBFB

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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