Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

Shi C; Liu XL; Li XN; Zhao YJ

doi:10.2478/bjmg-2024-0005

Balkan Journal of Medical Genetics (Sep 2024)

Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

Shi C,
Liu XL,
Li XN,
Zhao YJ

Affiliations

Shi C: Department of Pediatrics, The Fourth Affiliated Hospital of China Medical University, Shenyang, China
Liu XL: Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China
Li XN: Department of Pediatrics, The Fourth Affiliated Hospital of China Medical University, Shenyang, China
Zhao YJ: Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China

DOI: https://doi.org/10.2478/bjmg-2024-0005
Journal volume & issue: Vol. 27, no. 1
pp. 69 – 74

Abstract

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Congenital diarrheal disorders (CDD) are a group of rare inherited intestinal disorders, among which CDD7 was recently identified to be associated with only 24 mutations in gene coding for diacylglycerol-acyltransferase 1 (DGAT1).

Published in Balkan Journal of Medical Genetics

ISSN: 1311-0160 (Print); 2199-5761 (Online)
Publisher: Sciendo
Country of publisher: Poland
LCC subjects: Science: Biology (General): Genetics
Website: https://sciendo.com/journal/BJMG

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Abstract

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