de Brouwer, Arjan P M

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. [electronic resource] - American journal of human genetics 12 2018 - 1045-1052 p. digital

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

1537-6605

10.1016/j.ajhg.2018.10.026 doi


Adolescent
Aggression--physiology
Animals
Child
Drosophila melanogaster--genetics
Dwarfism--genetics
Exons--genetics
Female
Gene Knockout Techniques--methods
Genetic Variation--genetics
Homozygote
Humans
Intellectual Disability--genetics
Language Development Disorders--genetics
Male
Microcephaly--genetics
Pedigree
Phenotype
RNA, Messenger--genetics
RNA, Transfer--genetics