O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

C Velmans, AH O'Donnell-Luria, E Argilli… - Journal of medical …, 2022 - jmg.bmj.com
Background O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant
neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It …