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

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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Detalles Bibliográficos
Autores principales: Azab, Bilal, Rabab’h, Omar, Aburizeg, Dunia, Mohammad, Hashim, Dardas, Zain, Mustafa, Lina, Khasawneh, Ruba A., Awad, Heyam, Hatmal, Ma’mon M., Altamimi, Eyad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223108/
https://www.ncbi.nlm.nih.gov/pubmed/35741735
http://dx.doi.org/10.3390/genes13060973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223108/
https://www.ncbi.nlm.nih.gov/pubmed/35741735
http://dx.doi.org/10.3390/genes13060973

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