Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review. - Sedik, Rozhan Nabaz Mohammed; Sharif, Lawand A.; Kareem, Honar O.; Hasan, Karzan M.; Mohammed, Bilal A.; Mohammed, Thamr O.; Arif, Ali T.; Sabir, Wrya N.; Mustafa, Ayman M.; Rashid, Bilal A; Kakamad, Fahmi Hussein (Journal of Rare Diseases, 2026)