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Article

The ARID1B phenotype: what we have learned so far.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2014

Santen Gijs W E, Clayton-Smith Jill

Abstract excerpt

Evidence is now accumulating from a number of sequencing studies that ARID1B not only appears to be one of the most frequently mutated intellectual disability (ID) genes, but that the range of phenotypes caused by ARID1B mutations seems to be extremely wide. Thus, it is one of the most interesting ID genes identified so far in the exome sequencing era. In this article, we review the literature surrounding ARID1B...

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Identifiers

PMID: 25169814
DOI: 10.1002/ajmg.c.31414

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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