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  • Title: Fanconi-Bickel syndrome.
    Author: Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S.
    Journal: Indian J Pediatr; 2012 Jan; 79(1):112-4. PubMed ID: 21327337.
    Abstract:
    We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene.
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