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)-Reference-Cited by-同舟云学术

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)

Published:2019-04 Issue:4 Volume:62 Page:259-264
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

El-Bazzal Lara,Atkinson Alexandre,Gillart Anne-Celine,Obeid Marc,Delague Valérie^ORCID,Mégarbané André

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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