Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.

Virgilio E, Tielens S, Bonfield G, Nian FS, Sawatani T, Vinci C, Govier M, Montaser H, Lartigue R, Arunagiri A, Liboz A, Da Silva FN, Lytrivi M, Papadopoulou T, Wakeling MN, Russ-Silsby J, Bowman P, Johnson MB, Laver TW, Piron A, Yi X, Fantuzzi F, Hendrickx S, Igoillo-Esteve M, Santacreu BJ, Suntharesan J, Ghildiyal R, Hegde D, Shah N, Acar S, Dönmez BÖ, Özkan B, Mohsin F, Talaat IM, Abbas MT, Abbas OT, Alghamdi HA, Kandemir N, Flanagan SE, Scharfmann R, Arvan P, Raoux M, Nguyen L, Hattersley AT, Cnop M, De Franco E

Open source

DOI
10.1172/jci195756
Published
2025 Nov 17
Container
The Journal of clinical investigation
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1172/jci195756,
  title = {Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.},
  author = {Virgilio E and Tielens S and Bonfield G and Nian FS and Sawatani T and Vinci C and Govier M and Montaser H and Lartigue R and Arunagiri A and Liboz A and Da Silva FN and Lytrivi M and Papadopoulou T and Wakeling MN and Russ-Silsby J and Bowman P and Johnson MB and Laver TW and Piron A and Yi X and Fantuzzi F and Hendrickx S and Igoillo-Esteve M and Santacreu BJ and Suntharesan J and Ghildiyal R and Hegde D and Shah N and Acar S and Dönmez BÖ and Özkan B and Mohsin F and Talaat IM and Abbas MT and Abbas OT and Alghamdi HA and Kandemir N and Flanagan SE and Scharfmann R and Arvan P and Raoux M and Nguyen L and Hattersley AT and Cnop M and De Franco E},
  year = {2025},
  journal = {The Journal of clinical investigation},
  doi = {10.1172/jci195756},
  url = {https://doi.org/10.1172/jci195756}
}

RIS

TY  - JOUR
TI  - Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
AU  - Virgilio E
AU  - Tielens S
AU  - Bonfield G
AU  - Nian FS
AU  - Sawatani T
AU  - Vinci C
AU  - Govier M
AU  - Montaser H
AU  - Lartigue R
AU  - Arunagiri A
AU  - Liboz A
AU  - Da Silva FN
AU  - Lytrivi M
AU  - Papadopoulou T
AU  - Wakeling MN
AU  - Russ-Silsby J
AU  - Bowman P
AU  - Johnson MB
AU  - Laver TW
AU  - Piron A
AU  - Yi X
AU  - Fantuzzi F
AU  - Hendrickx S
AU  - Igoillo-Esteve M
AU  - Santacreu BJ
AU  - Suntharesan J
AU  - Ghildiyal R
AU  - Hegde D
AU  - Shah N
AU  - Acar S
AU  - Dönmez BÖ
AU  - Özkan B
AU  - Mohsin F
AU  - Talaat IM
AU  - Abbas MT
AU  - Abbas OT
AU  - Alghamdi HA
AU  - Kandemir N
AU  - Flanagan SE
AU  - Scharfmann R
AU  - Arvan P
AU  - Raoux M
AU  - Nguyen L
AU  - Hattersley AT
AU  - Cnop M
AU  - De Franco E
PY  - 2025
JO  - The Journal of clinical investigation
DO  - 10.1172/jci195756
UR  - https://doi.org/10.1172/jci195756
ER  -

APA

E, V., S, T., G, B., FS, N., T, S., C, V., M, G., H, M., R, L., A, A., A, L., FN, D. S., M, L., T, P., MN, W., J, R., P, B., MB, J., TW, L., A, P., X, Y., F, F., S, H., M, I., BJ, S., J, S., R, G., D, H., N, S., S, A., BÖ, D., B, Ö., F, M., IM, T., MT, A., OT, A., HA, A., N, K., SE, F., R, S., P, A., M, R., L, N., AT, H., M, C., & E, D. F. (2025). Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.. The Journal of clinical investigation. https://doi.org/10.1172/jci195756

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