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Article

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Clinical genetics - 1 Nov 2016

Jaruga A, Hordyjewska E, Kandzierski G, Tylzanowski P

Abstract excerpt

Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder...

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Identifiers

PMID: 27272193
DOI: 10.1111/cge.12812

Genes

RUNX2

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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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