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Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review.

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Title: Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review.
Authors: Sedik, Rozhan Nabaz Mohammed1,2 (AUTHOR), Sharif, Lawand A.3 (AUTHOR), Kareem, Honar O.4 (AUTHOR), Hasan, Karzan M.2,4 (AUTHOR), Mohammed, Bilal A.4 (AUTHOR), Mohammed, Thamr O.5,6 (AUTHOR), Arif, Ali T.5,7 (AUTHOR), Sabir, Wrya N.8 (AUTHOR), Mustafa, Ayman M.9,10 (AUTHOR), Rashid, Bilal A10 (AUTHOR), Kakamad, Fahmi Hussein1,9,10,11 (AUTHOR) kakamad.fahmi@gmail.com
Source: Journal of Rare Diseases. 7/22/2026, Vol. 5 Issue 1, p1-7. 7p.
Database: Academic Search Ultimate
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  Data: Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review.
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        Value: 10.1007/s44162-026-00221-2
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      – TitleFull: Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review.
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              Text: 7/22/2026
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