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  • Title: Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Author: Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Journal: Turk J Pediatr; 2005; 47(2):167-9. PubMed ID: 16052858.
    Abstract:
    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.
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