Potential Composite Digenic Contribution of <i>NPC1</i> and <i>NOD2</i> Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study
Niemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn’s disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-05-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/13/6/973 |