De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

BACKGROUND: The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. METHODS AND RESULTS: In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental dela...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Berko, Esther R, Cho, Megan T, Eng, Christine, Shao, Yunru, Sweetser, David A, Waxler, Jessica, Robin, Nathaniel H, Brewer, Fallon, Donkervoort, Sandra, Mohassel, Payam, Bönnemann, Carsten G, Bialer, Martin, Moore, Christine, Wolfe, Lynne A, Tifft, Cynthia J, Shen, Yufeng, Retterer, Kyle, Millan, Francisca, Chung, Wendy K
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5222737/
https://ncbi.nlm.nih.gov/pubmed/27389779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103943
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