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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Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: Said, Edith, Chong, Jessica X., Hempel, Maja, Denecke, Jonas, Soler, Paul, Strom, Tim, Nickerson, Deborah A., Kubisch, Christian, Bamshad, Michael, Lessel, Davor
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2017
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Article
Linkit: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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