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Article

A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.

American journal of medical genetics. Part A - 1 Sept 2017

Seabra Catarina M, Szoko Nicholas, Erdin Serkan, Ragavendran Ashok, Stortchevoi Alexei, Maciel Patrícia, Lundberg Kathleen, Schlatzer Daniela, Smith Janice, Talkowski Michael E, Gusella James F, Natowicz Marvin R

Abstract excerpt

Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regulation of transcription and multiple downstream cellular processes. We report here the clinical, genetic, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28691782
DOI: 10.1002/ajmg.a.38327
PMCID: PMC5561488

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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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