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Article

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

Nature genetics - 1 Jul 1997

Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G

Abstract excerpt

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development. The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated with disproportionate stature. To date, no genetic determinants of ossification have been...

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PMID: 9207800
DOI: 10.1038/ng0797-307

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.PMID 9207800Read ↗

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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.Semantic proximity Read ↗

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Cleidocranial dysplasia: clinical and molecular geneticsSemantic proximity Read ↗

Discovery: Osf2/Cbfa1, a master gene of bone formation.Semantic proximity Read ↗

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.Semantic proximity Read ↗

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasiaSemantic proximity Read ↗

Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.Semantic proximity Read ↗

Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial DysplasiaSemantic proximity Read ↗

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