CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2018-11-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-018-06014-6 |