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

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...

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Bibliographic Details
Main Authors: Bilal Azab, Omar Rabab’h, Dunia Aburizeg, Hashim Mohammad, Zain Dardas, Lina Mustafa, Ruba A. Khasawneh, Heyam Awad, Ma’mon M. Hatmal, Eyad Altamimi
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
Subjects:
digenic
NPC1
NOD2
Crohn’s
NPC
genotype–phenotype association
Online Access:https://www.mdpi.com/2073-4425/13/6/973

Internet

https://www.mdpi.com/2073-4425/13/6/973

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