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Article

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.

BMJ case reports - 5 Dec 2012

Callea Michele, Fattori Fabiana, Yavuz Izzet, Bertini Enrico

Abstract excerpt

The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3&emsp14;years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8&emsp14;years the child was found to have a unique dental...

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Identifiers

PMID: 23220435
DOI: 10.1136/bcr-12-2011-5422
PMCID: PMC4542990

Genes

RUNX2

Variants

Provenance

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