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Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we...
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Publicado no: | Am J Hum Genet |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Elsevier
2017
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5384038/ https://ncbi.nlm.nih.gov/pubmed/28318499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.02.006 |
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