Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant
Mostafa Neissi,
Adnan Issa Al-Badran,
Misagh Mohammadi-Asl
et al.
Abstract:Background
Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless progression of neurological deterioration and a distinctive hallmark of hepatosplenomegaly.
Case presentation
This case report delves into the intricate presentation of a 9-year-old Iraqi boy exhib… Show more
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