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• W2531057528 abstract "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 the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression." @default.
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• W2531057528 date "2016-10-13" @default.
• W2531057528 modified "2023-10-16" @default.
• W2531057528 title "Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation" @default.
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• W2531057528 doi "https://doi.org/10.1038/hgv.2016.35" @default.
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