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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)

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https://hal-amu.archives-ouvertes.fr/hal-01984013
Contributor : Valérie Delague <>
Submitted on : Wednesday, January 16, 2019 - 5:56:09 PM
Last modification on : Friday, September 11, 2020 - 4:06:05 PM

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Lara El-Bazzal, Alexandre Atkinson, Anne-Celine Gillart, Marc Obeid, André Mégarbané, 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, ⟨10.1016/j.ejmg.2018.07.025⟩. ⟨hal-01984013⟩

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