Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-10-13

AUTHORS

Vida Čulić, Noriko Miyake, Sunčana Janković, Davor Petrović, Marko Šimunović, Tomislav Đapić, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

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. More... »

PAGES

16035

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2016.35

DOI

http://dx.doi.org/10.1038/hgv.2016.35

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004971894

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27790376


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