A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
Al Mehdi Krami, Aymane Bouzidi, Majida Charif, Ghita Amalou, Hicham Charoute, Hassan Rouba, Rachida Roky, Guy Lenaers, Abdelhamid Barakat, Halima Nahili
Topics & Concepts
Intellectual disabilityProbandHypotoniaExome sequencingNonsenseGeneticsGlobal developmental delayBiologyExomeNonsense-mediated decayNeurodevelopmental disorderMedicineMutationPhenotypeGeneRNA splicingRNAGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathwaysGenomics and Rare Diseases