Article
Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.
Genes - 20 Jun 2021
Whittle Julia, Johnson Aaron, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. While skeletal muscle sarcomeric genes comprise many of the first genes identified for Distal Arthrogyposis, other mechanisms of disease have been demonstrated, including key effects on peripheral nerve function. While Distal Arthrogryposis and Lethal Congenital...
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