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Article

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

American journal of human genetics - 1 Nov 1999

Quack I, Vonderstrass B, Stock M, Aylsworth A S, Becker A, Brueton L, Lee P J, Majewski F, Mulliken J B, Suri M, Zenker M, Mundlos S, Otto F

Abstract excerpt

Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18...

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Identifiers

PMID: 10521292
DOI: 10.1086/302622
PMCID: PMC1288279

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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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