A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). - El-Bazzal, Lara; Atkinson, Alexandre; Gillart, Anne-Celine; Obeid, Marc; Delague, Valérie; Mégarbané, André (European Journal of Medical Genetics, 2019)