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Article

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.

BMC medical genomics - 18 Apr 2022

Saghi Mostafa, InanlooRahatloo Kolsoum, Alavi Afagh, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a clinically important disease and a most prevalent neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized. Exome sequencing revealed a homozygous missense mutation in the POLR3B gene in a consanguineous family with three Intellectual disability with craniofacial anomalies patients. POLR3B gene encoding the second largest subunit of RNA...

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Identifiers

PMID: 35436926
DOI: 10.1186/s12920-022-01237-5
PMCID: PMC9014605

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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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