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Al-Maraghi A, Shaath R, Ford K, Aamer W, AlRayahi J, Hussein S, Aliyev E, Agrebi N, Kohailan M, Hubrack SZ, et al. Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder. International Journal of Molecular Sciences. 2025; 26(11):5213. https://doi.org/10.3390/ijms26115213

Al-Maraghi, Aljazi, Rulan Shaath, Katherine Ford, Waleed Aamer, Jehan AlRayahi, Sura Hussein, Elbay Aliyev, Nourhen Agrebi, Muhammad Kohailan, Satanay Z. Hubrack, and et al. 2025. "Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder" International Journal of Molecular Sciences 26, no. 11: 5213. https://doi.org/10.3390/ijms26115213

Al-Maraghi, A., Shaath, R., Ford, K., Aamer, W., AlRayahi, J., Hussein, S., Aliyev, E., Agrebi, N., Kohailan, M., Hubrack, S. Z., Palaniswamy, S., Kennedy, A. D., DeBalsi, K. L., Elsea, S. H., Benini, R., Ben-Omran, T., Lo, B., Akil, A. S. A., & Fakhro, K. A. (2025). Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder. International Journal of Molecular Sciences, 26(11), 5213. https://doi.org/10.3390/ijms26115213