Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Summary: Autosomal recessive mutations in G6PC3 cause isolated and syndromic congenital neutropenia which includes congenital heart disease and atypical inflammatory bowel disease (IBD). In a highly consanguineous pedigree with novel mutations in G6PC3 and MPL, we performed comprehensive multi-omics...

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Bibliographic Details
Main Authors: Majed Dasouki, Ayodeele Alaiya, Tanziel ElAmin, Zakia Shinwari, Dorota Monies, Mohamed Abouelhoda, Amjad Jabaan, Feras Almourfi, Zuhair Rahbeeni, Fahad Alsohaibani, Fahad Almohareb, Hazzaa Al-Zahrani, Francisco J. Guzmán Vega, Stefan T. Arold, Mahmoud Aljurf, Syed Osman Ahmed
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:iScience
Subjects:
Pathophysiology
Systems Biology
Genomics
Proteomics
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004221001826

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