CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok, Lot

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. [electronic resource] - Nature communications 11 2018 - 4619 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2041-1723

10.1038/s41467-018-06014-6 doi


Adenosine Triphosphatases
Child, Preschool
Chromatin Assembly and Disassembly
DNA Helicases--genetics
Developmental Disabilities--genetics
Female
Gene Expression
Genotype
HEK293 Cells
Humans
Intellectual Disability--genetics
Language Disorders--genetics
Male
Megalencephaly--genetics
Mi-2 Nucleosome Remodeling and Deacetylase Complex--genetics
Models, Molecular
Mutation, Missense
Neurodevelopmental Disorders--genetics
Phenotype
Protein Domains--genetics
Speech Disorders--genetics
Whole Genome Sequencing