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Article

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

7 Feb 2013

Abstract excerpt

The distal arthrogryposis (DA) syndromes are a group of disorders characterized by non-progressive congenital contractures of the limbs. Mutations that cause distal arthrogryposis syndromes have been reported in six genes, each of which encodes a component of the contractile apparatus of skeletal myofibers. However, these reports have usually emanated from gene discovery efforts and thus potentially bias...

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PMID: 23401156
DOI: 10.1002/ajmg.a.35809

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