A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder

The human noggin (NOG) gene is responsible for a broad spectrum of clinical manifestations of NOG-related symphalangism spectrum disorder (NOG-SSD), which include proximal symphalangism, multiple synostoses, stapes ankylosis with broad thumbs (SABTT), tarsal–carpal coalition syndrome, and brachydact...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Takano, Kenichi, Ogasawara, Noriko, Matsunaga, Tatsuo, Mutai, Hideki, Sakurai, Akihiro, Ishikawa, Aki, Himi, Tetsuo
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4972895/
https://ncbi.nlm.nih.gov/pubmed/27508084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.23
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