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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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Publicado no: | Hum Genome Var |
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Main Authors: | , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2016
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Assuntos: | |
Acesso em linha: | 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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