Spectrum of Mutations that cause Distal Arthrogryposis Types 1 and 2B

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 my...

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Bibliographic Details
Main Authors: Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I. S., Kezele, Phillip R., Shively, Kathryn M. B., Carey, John C., Regnier, Michael, Bamshad, Michael J.
Format: Artigo
Language:Inglês
Published: 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581718/
https://ncbi.nlm.nih.gov/pubmed/23401156
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35809
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