A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia

Cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles and delayed closure of the cranial sutures, is caused by mutations of the runt-related transcription factor 2 (RUNX2) gene. The RUNX2 gene consists of a glutamine and alanine repeat domain...

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Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Mastushita, Masaki, Kitoh, Hiroshi, Subasioglu, Asli, Kurt Colak, Fatma, Dundar, Munis, Mishima, Kenichi, Nishida, Yoshihiro, Ishiguro, Naoki
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2015
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4369121/
https://ncbi.nlm.nih.gov/pubmed/25852448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000370337
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