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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...
में बचाया:
| मुख्य लेखकों: | , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Medknow Publications & Media Pvt Ltd
2013
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| विषय: | |
| ऑनलाइन पहुंच: | 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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