Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene.
Saltik-Temizel
Inci Nur
IN
Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Coşkun
Turgay
T
Yüce
Aysel
A
Koçak
Nurten
N
D005198:Fanconi Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051273:Glucose Transporter Type 2; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D014421:Turkey
D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins