Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Arthrogryposis multiplex congenita (AMC) is characterized by the presence of multiple joint contractures resulting from reduced or absent fetal movement. Here, we report two unrelated families affected by lethal AMC. By genetic mapping and whole-exome sequencing in a multiplex family, a heterozygous...

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Bibliographic Details
Published in:Am J Hum Genet
Main Authors: Mejlachowicz, Dan, Nolent, Flora, Maluenda, Jérome, Ranjatoelina-Randrianaivo, Hanitra, Giuliano, Fabienne, Gut, Ivo, Sternberg, Damien, Laquerrière, Annie, Melki, Judith
Format: Artigo
Language:Inglês
Published: Elsevier 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4596890/
https://ncbi.nlm.nih.gov/pubmed/26365340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.08.010
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