CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad, Enrico D H

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 12 2019 - 2723-2733 p. digital

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

1530-0366

10.1038/s41436-019-0585-z doi


Animals
CCCTC-Binding Factor--genetics
Child
Chromatin--genetics
Developmental Disabilities--genetics
Drosophila Proteins--genetics
Drosophila melanogaster--genetics
Female
Gene Expression Profiling--methods
Gene Expression Regulation--genetics
Humans
Intellectual Disability--genetics
Male
Mutation--genetics
Mutation, Missense--genetics
Neurodevelopmental Disorders--genetics
Transcription Factors--genetics
Exome Sequencing--methods
Young Adult