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Article

Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.

American journal of medical genetics. Part A - 1 May 2023

Amudhavalli Shivarajan M, Paolillo V, Lawson Caitlin, Patterson Melanie, Kussmann J, Nopper A J, Lypka M, Saunders Carol

Abstract excerpt

Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non...

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PMID: 36814386
DOI: 10.1002/ajmg.a.63149

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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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