Ontology highlight
ABSTRACT:
SUBMITTER: van der Sluijs PJ
PROVIDER: S-EPMC6752273 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Genetics in medicine : official journal of the American College of Medical Genetics 20181108 6
<h4>Purpose</h4>Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B- ...[more]