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Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proxima...
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| Udgivet i: | Biosci Rep |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Portland Press Ltd.
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7295635/ https://ncbi.nlm.nih.gov/pubmed/32478388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BSR20200509 |
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