Songklanagarind Hospital

Expanding the Clinical Spectrum of DHX30 ‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30 ‐related NDD ( DHX30 ‐NDD) is a recently described condition with an evolving phenotypic spec...