Article
A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
American journal of medical genetics. Part A - 15 Dec 2006
Stevenson D A, Swoboda K J, Sanders R K, Bamshad M
Abstract excerpt
The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification of DAs and distinguished several new syndromes. This revision has facilitated the identification of five genes (i.e., TNNI2, TNNT3, MYH3, MYH8, and TPM2) that encode components of the contractile apparatus of fast-twitch...
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