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. |
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| 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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