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; Altmuller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nurnberg, Peter; Salih, Mustafa A.; Ahmed, Ammar E.; Lerche, Holger; Stevanin, Giovanni

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

Autor(en):

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; Altmuller, Janine; Toliat, Mohammad Reza; Thiele, Holger; Nurnberg, Peter; Salih, Mustafa A.; Ahmed, Ammar E.; Lerche, Holger; Stevanin, Giovanni

Tübinger Autor(en):

Koko, Mahmoud
Lerche, Holger

Erschienen in:

Annals of Human Genetics (2021), Bd. 85, H. 5, S. 186-195

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1111/ahg.12437

ISSN:

1469-1809