Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth S Baynam, David R. Bearden, Ana Beleza‐Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frédéric Bilan, Laurence Albert Bindoff, , 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.
Genome Medicine · May 21, 2021Peer-reviewedGenetic & Genomic Medicine