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Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Mutations in GLE1 underlie Lethal Congenital Contracture syndrome and Lethal Arthrogryposis with Anterior Horn Cell Disease. Both Lethal Congenital Contracture syndrome and Lethal Arthrogryposis with Anterior Horn Cell Disease are characterized by reduced fetal movements, congenital contractures, an...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Said, Edith, Chong, Jessica X., Hempel, Maja, Denecke, Jonas, Soler, Paul, Strom, Tim, Nickerson, Deborah A., Kubisch, Christian, Bamshad, Michael, Lessel, Davor
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5659324/
https://ncbi.nlm.nih.gov/pubmed/28884921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38406
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