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Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in t...
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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5061862/ https://ncbi.nlm.nih.gov/pubmed/27790376 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.35 |
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