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Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.

Authors
  • Saltik-Temizel, Inci Nur
  • Coşkun, Turgay
  • Yüce, Aysel
  • Koçak, Nurten
Type
Published Article
Journal
The Turkish Journal of Pediatrics
Publisher
The Turkish Journal of Pediatrics
Publication Date
Jan 01, 2005
Volume
47
Issue
2
Pages
167–169
Identifiers
PMID: 16052858
Source
Medline
License
Unknown

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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