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Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants

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Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (TRIM37) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours. TRIM37 has been li... ...