Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Hordyjewska, Ewa, Jaruga, Anna, Kandzierski, Grzegorz, Tylzanowski, Przemko
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2017
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582518/
https://ncbi.nlm.nih.gov/pubmed/28878609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477307
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