![Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family]()
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese familyElsayed, Liena E. O.; Mohammed, Inaam N.; Hamed, Ahlam A. A.; Elseed, Maha A.; Salih, Mustafa A. M.; Yahia, Ashraf; Siddig, Rayan A.; Amin, Mutaz; Koko, Mahmoud; Elbashir, Mustafa I.; Ibrahim, Muntaser E.; Brice, Alexis; Ahmed, Ammar E.; Stevanin, Giovanni · BMC Medical Genetics · 2018