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Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

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Title: Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Authors: Al-Maraghi, Aljazi1 (AUTHOR), Shaath, Rulan1,2 (AUTHOR), Ford, Katherine3 (AUTHOR), Aamer, Waleed1,4 (AUTHOR), AlRayahi, Jehan4,5 (AUTHOR), Hussein, Sura1,6 (AUTHOR), Aliyev, Elbay1,7 (AUTHOR), Agrebi, Nourhen3,8 (AUTHOR), Kohailan, Muhammad1,9 (AUTHOR), Hubrack, Satanay Z.1,3 (AUTHOR), Palaniswamy, Sasirekha1,2 (AUTHOR), Kennedy, Adam D.3,5 (AUTHOR), DeBalsi, Karen L.4,5 (AUTHOR), Elsea, Sarah H.5,6 (AUTHOR), Benini, Ruba6,7 (AUTHOR), Ben-Omran, Tawfeg7,8 (AUTHOR), Lo, Bernice2,3,8 (AUTHOR), Akil, Ammira S. A.1,9 (AUTHOR), Fakhro, Khalid A.1,2,9 (AUTHOR) kfakhro@sidra.org
Source: International Journal of Molecular Sciences. Jun2025, Vol. 26 Issue 11, p5213. 10p.
Database: Academic Search Ultimate
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ISSN:16616596
DOI:10.3390/ijms26115213