Open AccessFanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature
Author(s) -
Liang Xiong,
Mao-Ling Jiang,
Lingyao Du,
Lan Yuan,
Xin Xie
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i21.5467
Subject(s) - medicine , nonsense mutation , short stature , endocrinology , liver biopsy , jaundice , liver disease , pediatrics , missense mutation , gastroenterology , mutation , genetics , biology , biopsy , gene
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder caused by mutation of the SLC2A2 gene, which encodes glucose transporter protein 2 (GLUT2).