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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Syndromol
Egile Nagusiak: Mastushita, Masaki, Kitoh, Hiroshi, Subasioglu, Asli, Kurt Colak, Fatma, Dundar, Munis, Mishima, Kenichi, Nishida, Yoshihiro, Ishiguro, Naoki
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: S. Karger AG 2015
Gaiak:
Short Report
Sarrera elektronikoa: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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