Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Hebbar, Malavika, MD, Prasad L., Harsha, MD, Bhowmik, Aneek Das, PhD, Chakraborti, Shrijeet, MD, Kandaswamy, Krishna Kumar, PhD, Kamath, Prof. Nutan, MD, Dalal, Ashwin, MD, Bielas, Stephanie, PhD
In this publication we report the first patient with Niemann-Pick disease type C associated with a deletion of two exons in NPC2. Read more!
Niemann–Pick disease type C (MIM 607625; NP-C) is an autosomal recessive, lysosomal storage disorder caused by impaired cholesterol and glycolipid trafficking due to pathogenic variations in either NPC1 (accounting for more than 95% of cases) or NPC2 [Park et al., 2003]. Here we report the first patient with NP-C associated with a deletion of two exons in NPC2.
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