Associated Papers
Combined Genetic and Transcriptional Study Unveils the Role of DGAT1 Gene Mutations in Congenital Diarrhea.
Zeng J et al.
Biomedicines, 2025
A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations.
Millman P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.
Shi C et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM et al.
Gastroenterology, 2018
Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea.
Gluchowski NL et al.
Journal of Lipid Research, 2017
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
Stephen J et al.
European Journal of Human Genetics : Ejhg, 2016
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