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Article

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

Blood cells, molecules & diseases - 1 Jan 2000

Yoshida Taketoshi, Kanegane Hirokazu, Osato Motomi, Yanagida Masatoshi, Miyawaki Toshio, Ito Yoshiaki, Shigesada Katsuya

Abstract excerpt

Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor, RUNX2. We have performed mutational analysis of RUNX2 on 24 unrelated patients with CCD. In 17 patients, 16 distinct mutations were detected in the coding region of RUNX2: 4 frameshift, 3 nonsense, 6 missense, and 2 splicing mutations alongside one...

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Source

Identifiers

PMID: 12732182
DOI: 10.1016/s1079-9796(03)00020-2

Genes

RUNX2
RUNX1

Provenance

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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