Lara El-Bazzal, Alexandre Atkinson, Anne-Celine Gillart, Marc Obeid, Valérie Delague, et al.. 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).
European Journal of Medical Genetics, Elsevier, 2018, 62 (4), pp.259-264.
⟨10.1016/j.ejmg.2018.07.025⟩.
⟨hal-01984013⟩