Delineating the phenotype of RNU4ATAC-related spliceosomopathy
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Richmond, Christopher M
McGaughran, Julie
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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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American Journal of Medical Genetics Part A
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191
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4
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© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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Genetics
Clinical sciences
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
Lowry-Wood syndrome
microcephalic osteodysplastic primordial dwarfism type 1
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Tabib, A; Richmond, CM; McGaughran, J, Delineating the phenotype of RNU4ATAC-related spliceosomopathy, American Journal of Medical Genetics Part A, 2023, 191 (4), pp. 1094-1100