A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL

Amal Ouskri(Centre Hospitalier Universitaire Hassan II), Sylvie Jaillard(Inserm), Hajar Ihlal(Centre Hospitalier Universitaire Hassan II), Karim Ouldim(Centre Hospitalier Universitaire Hassan II), Anna Lokchine(Inserm), Laura Mary(Université de Rennes), Sanae Chaouki(Centre Hospitalier Universitaire Hassan II), Laila Bouguenouch(Centre Hospitalier Universitaire Hassan II), Zaid En-Nasery(Centre Hospitalier Universitaire Hassan II), Erika Launay(Université Sorbonne Paris Nord)
Neurogenetics
November 6, 2025
10.1007/s10048-025-00862-3
Cited by 2

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