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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Gepubliceerd in:J Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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Article
Online toegang: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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