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Article

Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.

Brain & development - 1 Mar 2023

Asadauskaitė Greta, Morkūnienė Aušra, Utkus Algirdas, Burnytė Birutė

Abstract excerpt

BACKGROUND: Pathogenic heterozygous variants in BICRA have recently been identified in patients with SWI/SNF-related intellectual disability (SSRIDD) - Coffin-Siris syndrome 12. So far, only one article reported SSRIDD associated with pathogenic variants in BICRA. CASE PRESENTATION: The patient's phenotype include low birth weight, microcephaly, neurodevelopment delay, visual, gastrointestinal, urinary tract...

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Source

Identifiers

PMID: 36437209
DOI: 10.1016/j.braindev.2022.11.003

Provenance

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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