Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study

Azab, B., Rabab’h, O., Aburizeg, D., Mohammad, H., Dardas, Z., Mustafa, L., Khasawneh, R. A., Awad, H., Hatmal, M. M., & Altamimi, E. (2022). Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes, 13(6), 973. https://doi.org/10.3390/genes13060973
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
Affiliated Authors:
Bilal Azab
Columbia Affiliation:
Subjects:
Lysosomal Storage Disorders in Human Health and Disease (OpenAlex Topic)
Hemophagocytic Lymphohistiocytosis and Related Disorders (OpenAlex Topic)
Composition and Health Effects of Human Milk (OpenAlex Topic)
Crohn Disease (MeSH)
Niemann-Pick C1 Protein (MeSH)
Niemann-Pick Disease, Type C (MeSH)
Nod2 Signaling Adaptor Protein (MeSH)
Author Keywords:
digenic
npc1
nod2
crohn's
npc
genotype-phenotype association
crohn’s
genotype–phenotype association
elink
Publication Type:
Article
Unique ID:
10.3390/genes13060973
PMID:
35741735
DOI:
10.3390/genes13060973
Journal:
Genes
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: