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)

Lara El-Bazzal; Alexandre Atkinson; Anne-Celine Gillart; Marc Obeid; André Mégarbané; Valérie Delague

doi:10.1016/j.ejmg.2018.07.025

Journal articles

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)

Lara El-Bazzal ¹ Alexandre Atkinson ¹ Anne-Celine Gillart ² Marc Obeid ³ André Mégarbané ² Valérie Delague ¹

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

2 Institut Jérôme Lejeune

3 AUST - American University of Sciences and Technology

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics

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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 : Saturday, October 3, 2020 - 3:23:34 AM

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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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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