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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Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Mastushita, Masaki, Kitoh, Hiroshi, Subasioglu, Asli, Kurt Colak, Fatma, Dundar, Munis, Mishima, Kenichi, Nishida, Yoshihiro, Ishiguro, Naoki
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2015
Schlagworte:
Short Report
Online Zugang: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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