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)
- DOI
- 10.1016/j.ejmg.2018.07.025
- Published
- 2019-04
- Container
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ejmg.2018.07.025,
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)},
author = {Lara El-Bazzal and Alexandre Atkinson and Anne-Celine Gillart and Marc Obeid and Valérie Delague and André Mégarbané},
year = {2019},
journal = {European Journal of Medical Genetics},
doi = {10.1016/j.ejmg.2018.07.025},
url = {https://doi.org/10.1016/j.ejmg.2018.07.025}
}RIS
TY - JOUR TI - 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) AU - Lara El-Bazzal AU - Alexandre Atkinson AU - Anne-Celine Gillart AU - Marc Obeid AU - Valérie Delague AU - André Mégarbané PY - 2019 JO - European Journal of Medical Genetics DO - 10.1016/j.ejmg.2018.07.025 UR - https://doi.org/10.1016/j.ejmg.2018.07.025 ER -
APA
El-Bazzal, L., Atkinson, A., Gillart, A., Obeid, M., Delague, V., & Mégarbané, A. (2019). 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. https://doi.org/10.1016/j.ejmg.2018.07.025
Source records
- crossref · retrieved 2026-11-10T15:49:46.902Z