Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder
Author: Al-Maraghi, Aljazi; Shaath, Rulan; Ford, Katherine; Aamer, Waleed; AlRayahi, Jehan; Hussein, Sura; Aliyev, Elbay; Agrebi, Nourhen; Kohailan, Muhammad; Hubrack, Satanay Z.; Palaniswamy, Sasirekha; Kennedy, Adam D.; DeBalsi, Karen L.; Elsea, Sarah H.; Benini, Ruba; Ben-Omran, Tawfeg; Lo, Bernice; Akil, Ammira S. A.; Fakhro, Khalid A.
Year Published: 2025
Media Outlet: International Journal of Molecular Sciences
Open Access? No
Matrix: Plasma and Serum, Tissue
Biological Themes: Growth and Development, Neurological function
Product(s): Global Discovery Panel
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