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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Bibliografske podrobnosti
izdano v:Am J Hum Genet
Main Authors: Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2017
Teme:
Report
Online dostop: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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