FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.

Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordoñez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoğlu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A

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DOI: 10.1016/j.ajhg.2025.03.013
Published: 2025 May 1
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2025.03.013,
  title = {FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.},
  author = {Ramakrishna NB and Mohamad Sahari UB and Johmura Y and Ali NA and Alghamdi M and Bauer P and Khan S and Ordoñez N and Ferreira M and Pinto Basto J and Alkuraya FS and Faqeih EA and Mori M and Almontashiri NAM and Al Shamsi A and ElGhazali G and Abu Subieh H and Al Ojaimi M and El-Hattab AW and Said Al-Kindi SA and Alhashmi N and Alhabshan F and Al Saman A and Tfayli H and Arabi M and Khalifeh S and Taylor A and Alfadhel M and Jain R and Sinha S and Shenbagam S and Ramachandran R and Altunoğlu U and Jacob A and Thalange N and El Bejjani M and Perrin A and Shin JW and Al-Maawali A and Al-Shidhani A and Al-Futaisi A and Rabea F and Chekroun I and Almarri MA and Ohta T and Nakanishi M and Alsheikh-Ali A and Ali FR and Bertoli-Avella AM and Reversade B and Abou Tayoun A},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.03.013},
  url = {https://doi.org/10.1016/j.ajhg.2025.03.013}
}

RIS

TY  - JOUR
TI  - FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
AU  - Ramakrishna NB
AU  - Mohamad Sahari UB
AU  - Johmura Y
AU  - Ali NA
AU  - Alghamdi M
AU  - Bauer P
AU  - Khan S
AU  - Ordoñez N
AU  - Ferreira M
AU  - Pinto Basto J
AU  - Alkuraya FS
AU  - Faqeih EA
AU  - Mori M
AU  - Almontashiri NAM
AU  - Al Shamsi A
AU  - ElGhazali G
AU  - Abu Subieh H
AU  - Al Ojaimi M
AU  - El-Hattab AW
AU  - Said Al-Kindi SA
AU  - Alhashmi N
AU  - Alhabshan F
AU  - Al Saman A
AU  - Tfayli H
AU  - Arabi M
AU  - Khalifeh S
AU  - Taylor A
AU  - Alfadhel M
AU  - Jain R
AU  - Sinha S
AU  - Shenbagam S
AU  - Ramachandran R
AU  - Altunoğlu U
AU  - Jacob A
AU  - Thalange N
AU  - El Bejjani M
AU  - Perrin A
AU  - Shin JW
AU  - Al-Maawali A
AU  - Al-Shidhani A
AU  - Al-Futaisi A
AU  - Rabea F
AU  - Chekroun I
AU  - Almarri MA
AU  - Ohta T
AU  - Nakanishi M
AU  - Alsheikh-Ali A
AU  - Ali FR
AU  - Bertoli-Avella AM
AU  - Reversade B
AU  - Abou Tayoun A
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.03.013
UR  - https://doi.org/10.1016/j.ajhg.2025.03.013
ER  -

APA

NB, R., UB, M. S., Y, J., NA, A., M, A., P, B., S, K., N, O., M, F., J, P. B., FS, A., EA, F., M, M., NAM, A., A, A. S., G, E., H, A. S., M, A. O., AW, E., SA, S. A., N, A., F, A., A, A. S., H, T., M, A., S, K., A, T., M, A., R, J., S, S., S, S., R, R., U, A., A, J., N, T., M, E. B., A, P., JW, S., A, A., A, A., A, A., F, R., I, C., MA, A., T, O., M, N., A, A., FR, A., AM, B., B, R., & A, A. T. (2025). FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.03.013

Source records

pubmed · retrieved 2026-09-26T10:34:46.781Z