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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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Mastushita, Masaki, Kitoh, Hiroshi, Subasioglu, Asli, Kurt Colak, Fatma, Dundar, Munis, Mishima, Kenichi, Nishida, Yoshihiro, Ishiguro, Naoki
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2015
Assuntos:
Short Report
Acesso em linha: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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