Article
DGAT1 mutations leading to delayed chronic diarrhoea: a case report.
BMC medical genetics - 1 Dec 2020
Xu Luojia, Gu Weizhong, Luo Youyou, Lou Jingan, Chen Jie
Abstract excerpt
BACKGROUND: Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. CASE PRESENTATION: Here, we report a female...
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