Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
- DOI
- 10.1016/j.ejmg.2018.03.002
- Published
- 2018 Aug
- Container
- European journal of medical genetics
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ejmg.2018.03.002,
title = {Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.},
author = {Moortgat S and Lederer D and Deprez M and Buzatu M and Clapuyt P and Boulanger S and Benoit V and Mary S and Guichet A and Ziegler A and Colin E and Bonneau D and Maystadt I},
year = {2018},
journal = {European journal of medical genetics},
doi = {10.1016/j.ejmg.2018.03.002},
url = {https://doi.org/10.1016/j.ejmg.2018.03.002}
}RIS
TY - JOUR TI - Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. AU - Moortgat S AU - Lederer D AU - Deprez M AU - Buzatu M AU - Clapuyt P AU - Boulanger S AU - Benoit V AU - Mary S AU - Guichet A AU - Ziegler A AU - Colin E AU - Bonneau D AU - Maystadt I PY - 2018 JO - European journal of medical genetics DO - 10.1016/j.ejmg.2018.03.002 UR - https://doi.org/10.1016/j.ejmg.2018.03.002 ER -
APA
S, M., D, L., M, D., M, B., P, C., S, B., V, B., S, M., A, G., A, Z., E, C., D, B., & I, M. (2018). Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.. European journal of medical genetics. https://doi.org/10.1016/j.ejmg.2018.03.002
Source records
- pubmed · retrieved 2026-11-10T13:36:47.714Z