Genetic & Genomic MedicineGenome MedicinePeer-reviewed
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber…·Davor Lessel
This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.
35 citations