Article
Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
American journal of medical genetics. Part A - 1 Jun 2025
Hodgson A K O, Baxandall L, Aiyedun D, Li A, Au P Y B, Bain J M, Gillentine M A, Goel H, Kline A D, Ricupero C L, Sánchez-Carpintero R, Seward E P, Sidlow R, Wilson S A, Balasubramanian M
Abstract excerpt
HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be affected by HNRNPU-NDD is increasing. We document a cohort of 17 previously...
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