Heterozygosity in NPC may be associated with neurologic and systemic phenotypes

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes

BackgroundNiemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births. Emerging biochemical, genetic, and clinical evidence challenges the traditional view that disease-associated variants in the genes associated with th...

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Main Authors: Tatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, Kyriakos Martakis, Marianne Rohrbach, Matthias Gautschi, Radhika Dhamija, Jaya Ganesh, Melinda Peters, Mark Walterfang, Susanne A. Schneider
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Neurology
Subjects:
Niemann-Pick disease type C
carrier
heterozygosity
heterozygote
rare disease
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2025.1618380/full
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