Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

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

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Autor(en):

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

Tübinger Autor(en):

Khan, Amjad

Erschienen in:

Genetics in Medicine (2025), Bd. 27, H. 2

Verlagsangabe:

New York : Elsevier Science Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.gim.2024.101278

ISSN:

1098-3600