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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | 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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