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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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Čulić, Vida, Miyake, Noriko, Janković, Sunčana, Petrović, Davor, Šimunović, Marko, Đapić, Tomislav, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Data Report
Accès en ligne: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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