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Article

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

European journal of pediatrics - 1 Nov 2002

Morava Eva, Kárteszi Judit, Weisenbach János, Caliebe Almuth, Mundlos Stefan, Méhes Károly

Abstract excerpt

UNLABELLED: Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CCD. We investigated a mother and daughter with features of CCD presenting with reduced plasma...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12424590
DOI: 10.1007/s00431-002-0977-x

Genes

RUNX2

Provenance

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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