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Article

Delineating the phenotype of RNU4ATAC-related spliceosomopathy.

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

Tabib Amanda, Richmond Christopher M, McGaughran Julie

Abstract excerpt

Biallelic pathogenic variants in RNU4ATAC cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry-Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping features. Although historically described as discrete conditions they appear to represent a phenotypic spectrum with clinical features not always aligning with...

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Source

Identifiers

PMID: 36622817
DOI: 10.1002/ajmg.a.63110

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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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