Fountain, Michael D

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 08 2019 - 1797-1807 p. digital

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

1530-0366

10.1038/s41436-019-0433-1 doi


Adolescent
Autism Spectrum Disorder--genetics
Child
Child, Preschool
Chromosome Deletion
DNA-Binding Proteins--genetics
Genome, Human--genetics
Haploinsufficiency--genetics
Humans
Infant
Infant, Newborn
Intellectual Disability--genetics
Language Development Disorders--genetics
Neurodevelopmental Disorders--genetics
Nuclear Proteins--genetics
Phenotype
Problem Behavior
Proteins--genetics
Exome Sequencing