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  • Title: Delineating the phenotype of RNU4ATAC-related spliceosomopathy.
    Author: Tabib A, Richmond CM, McGaughran J.
    Journal: Am J Med Genet A; 2023 Apr; 191(4):1094-1100. PubMed ID: 36622817.
    Abstract:
    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 diagnostic categories. Clinical variability and ambiguity in diagnostic criteria exist among each disorder. Here we report an individual with a novel genotype and phenotype spanning all three disorders, expanding the phenotypic spectrum of RNU4ATAC-related spliceosomeopathies.
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