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

Esther R Berko,Megan T Cho,Christine Eng,Yunru Shao,David A Sweetser,Jessica Waxler,Nathaniel H Robin,Fallon Brewer,Sandra Donkervoort,Payam Mohassel,Carsten G Bönnemann,Martin Bialer,Christine Moore,Lynne A Wolfe,Cynthia J Tifft,Yufeng Shen,Kyle Retterer,Francisca Millan,Wendy K Chung

JOURNAL OF MEDICAL GENETICS（2017）

Cited 42|Views81

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Key words

intellectual disability,whole exome sequencing,de novo,HECW2,neurodevelopmental delay

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