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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

Koko, Mahmoud; Yahia, Ashraf; Elsayed, Liena E; Hamed, Ahlam A; Mohammed, Inaam N; Elseed, Maha A; Hamad, Muddathir H A; Babai, Arwa M; Siddig, Rayan A; Abd Allah, Amal S I; Mohamed, Mayada; El-Amin, Melka; Esteves, Typhaine; Altmüller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nürnberg, Peter; Ahmed, Ammar E; Salih, Mustafa A; Stevanin, Giovanni (Ann Hum Genet ., 2021)

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- splice-site variant. (1)
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