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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 ch...

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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 4 Sept 2026. Prepared record publication-11857736-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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