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Ann Hum Genet
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
- M. Koko
- A. Yahia
- L.E. Elsayed
- A.A. Hamed
- I.N. Mohammed
- M.A. Elseed
- M.H.A. Hamad
- A.M. Babai
- R.A. Siddig
- A.S.I. Abd Allah
- M. Mohamed
- M. El-Amin
- T. Esteves
- J. Altmüller
- M.R. Toliat
- H. Thiele
- P. Nürnberg
- M.A. Salih
- A.E. Ahmed
- H. Lerche
- G. Stevanin