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Distal arthrogryposis: clinical and genetic findings

20 Apr 2012

Abstract excerpt

AIM: Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis. Our aim is to describe clinical and molecular genetic findings in individuals with distal arthrogryposis and evaluate the genotype-phenotype correlation. METHOD: We investigated 39 patients from 21 families. Clinical...

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PMID: 22519952
DOI: 10.1111/j.1651-2227.2012.02708.x

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