A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family
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DOI: 10.1002/mgg3.2042
Abstract: Distal arthrogryposis (DA) is a group of congenital autosomal‐dominant disorders secondary to defects in joint and muscle function, characterized by multiple joint contractures of the hands and feet. DA can be divided into 10 types… read more here.
Keywords: tnni2 variant; variant 525g; causes distal; distal arthrogryposis ... See more keywords