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Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a sin...

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Detalhes bibliográficos
Main Authors: Hadipour, Fatemeh, Sarkheil, Peymaneh, Noruzinia, Mehrdad, Hadipour, Zahra, Baghdadi, Taghi, Shafeghati, Yousef
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722635/
https://ncbi.nlm.nih.gov/pubmed/23901198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.112906
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