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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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Bibliographic Details
Title: 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).
Authors: El-Bazzal, Lara1 (AUTHOR), Atkinson, Alexandre1 (AUTHOR), Gillart, Anne-Celine2 (AUTHOR), Obeid, Marc3 (AUTHOR), Delague, Valérie1 (AUTHOR), Mégarbané, André1,2 (AUTHOR) andre.megarbane@institutlejeune.org
Source: European Journal of Medical Genetics. Apr2019, Vol. 62 Issue 4, p259-264. 6p.
Database: Academic Search Ultimate
Description
ISSN:17697212
DOI:10.1016/j.ejmg.2018.07.025