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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...
Tallennettuna:
| Julkaisussa: | Hum Genome Var |
|---|---|
| Päätekijät: | , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2016
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| Aiheet: | |
| Linkit: | 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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