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).
Saved in:
| 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 |
Be the first to leave a comment!
