A homozygous C2ORF78 variant is associated with mTOR hyperactivation and neurodevelopmental defects in focal cortical dysplasia.

Ahmad SR, Zeyaullah M, Zahrani Y, Altijani AA, Hummad H, Mohamed AOA, Dhiman NK

DOI: 10.1038/s10038-026-01524-4
Published: 2026 Nov 4
Container: Journal of human genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s10038-026-01524-4,
  title = {A homozygous C2ORF78 variant is associated with mTOR hyperactivation and neurodevelopmental defects in focal cortical dysplasia.},
  author = {Ahmad SR and Zeyaullah M and Zahrani Y and Altijani AA and Hummad H and Mohamed AOA and Dhiman NK},
  year = {2026},
  journal = {Journal of human genetics},
  doi = {10.1038/s10038-026-01524-4},
  url = {https://doi.org/10.1038/s10038-026-01524-4}
}

RIS

TY  - JOUR
TI  - A homozygous C2ORF78 variant is associated with mTOR hyperactivation and neurodevelopmental defects in focal cortical dysplasia.
AU  - Ahmad SR
AU  - Zeyaullah M
AU  - Zahrani Y
AU  - Altijani AA
AU  - Hummad H
AU  - Mohamed AOA
AU  - Dhiman NK
PY  - 2026
JO  - Journal of human genetics
DO  - 10.1038/s10038-026-01524-4
UR  - https://doi.org/10.1038/s10038-026-01524-4
ER  -

APA

SR, A., M, Z., Y, Z., AA, A., H, H., AOA, M., & NK, D. (2026). A homozygous C2ORF78 variant is associated with mTOR hyperactivation and neurodevelopmental defects in focal cortical dysplasia.. Journal of human genetics. https://doi.org/10.1038/s10038-026-01524-4

Source records

pubmed · retrieved 2026-11-10T13:43:35.235Z