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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Detalles Bibliográficos
Autores principales: Hadipour, Fatemeh, Sarkheil, Peymaneh, Noruzinia, Mehrdad, Hadipour, Zahra, Baghdadi, Taghi, Shafeghati, Yousef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722635/
https://www.ncbi.nlm.nih.gov/pubmed/23901198
http://dx.doi.org/10.4103/0971-6866.112906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722635/
https://www.ncbi.nlm.nih.gov/pubmed/23901198
http://dx.doi.org/10.4103/0971-6866.112906

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