Hoyer, Juliane

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. [electronic resource] - American journal of human genetics Mar 2012 - 565-72 p. digital

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

1537-6605

10.1016/j.ajhg.2012.02.007 doi


Adolescent
Adult
Child
Child, Preschool
Chromatin--genetics
Chromatin Assembly and Disassembly--genetics
Chromosomal Proteins, Non-Histone--genetics
Cohort Studies
DNA Mutational Analysis--methods
DNA-Binding Proteins--genetics
Exons
Female
Haploinsufficiency
Humans
Intellectual Disability
Male
Middle Aged
Mutation
Transcription Factors--genetics
Young Adult