COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- DOI
- 10.1159/000494465
- Published
- 2019 Jan
- Container
- Molecular syndromology
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1159/000494465,
title = {COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?},
author = {Nair P and Lama M and El-Hayek S and Abou Sleymane G and Stora S and Obeid M and Al-Ali MT and Delague V and Mégarbané A},
year = {2019},
journal = {Molecular syndromology},
doi = {10.1159/000494465},
url = {https://doi.org/10.1159/000494465}
}RIS
TY - JOUR TI - COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? AU - Nair P AU - Lama M AU - El-Hayek S AU - Abou Sleymane G AU - Stora S AU - Obeid M AU - Al-Ali MT AU - Delague V AU - Mégarbané A PY - 2019 JO - Molecular syndromology DO - 10.1159/000494465 UR - https://doi.org/10.1159/000494465 ER -
APA
P, N., M, L., S, E., G, A. S., S, S., M, O., MT, A., V, D., & A, M. (2019). COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?. Molecular syndromology. https://doi.org/10.1159/000494465
Source records
- pubmed · retrieved 2026-09-26T02:01:40.288Z