Elucidating the Clinical and Genetic Spectrum of Inositol Polyphosphate Phosphatase INPP4A-related Neurodevelopmental Disorder
Lettie E. Rawlins, Stuart J. Cannon,Muhannad Daana,Mina Zamani, Shamsul Ghani,Joseph S. Leslie,Nishanka Ubeyratna,Nasar Khan, Hamid Khan,Annarita Scardamaglia, Robin Cloarec, Shujaat Ali Khan, Muhammad Umair,Saeid Sadeghian,Hamid Galehdari,Almundher Al-Maawali,Adila Al-Kindi,Reza Azizimalamiri,Gholamreza Shariati, Faraz Ahmad,Amna Al-Futaisi, Pedro M. Rodriguez Cruz, Ainara Salazar-Villacorta, Moustapha Ndiaye,Amadou G. Diop, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid,Maha S. Zaki,Barbara Vona, Daniel Owrang, Abdullah M. Alhashem,Makram Obeid, Amjad Khan, Ahmad Beydoun,Marwan Najjar,Homa Tajsharghi,Giovanni Zifarelli, Peter Bauer, Wejdan S. Hakami, Amal M. Al Hashem, Rose-Mary N. Boustany, Lydie Burglen,Shahryar Alavi,Adam C. Gunning,Martina Owens,Ehsan G. Karimiani, Joseph G. Gleeson, Mathieu Milh,Somaya Salah, Jahangir Khan, Volker Haucke, Caroline F. Wright,Lucy Mcgavin,Orly Elpeleg, Muhammad I. Shabbir,Henry Houlden, Michael Ebner,Emma L. Baple,Andrew H. Crosby GENETICS IN MEDICINE（2025）
Key words
Endocytosis,INPP4A,Neurodevelopmental disorder,Phosphoinositide phosphatase,Translation reinitiation
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