The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
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DOI: 10.1038/s41436-018-0330-z
Abstract: PurposePathogenic 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… read more here.
Keywords: intellectual disability; coffin siris; css; arid1b css ... See more keywords