Associated Papers
EpiSignature Utility for Variant of Uncertain Significance Reclassification in an Apparently Atypical Presentation of HNRNPU-Related Neurodevelopmental Disorder: A Case Report.
Zuelke A et al.
Molecular Syndromology, 2025
Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
Hodgson AKO et al.
American Journal of Medical Genetics. Part A, 2025
Select a paper to view details