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Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family()

Three siblings, aged 12, 4 and 2 years, presented at a Gambian clinic with bone deformities. Radiographs of knees and wrists confirmed the presence of florid rickets. The family (including 2 unaffected siblings and the mother) were investigated for hereditary rickets. The three affected siblings had...

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Bibliographic Details
Main Authors: Braithwaite, Vickie, Pettifor, John M., Prentice, Ann
Format: Artigo
Language:Inglês
Published: Elsevier Science 2013
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3557384/
https://ncbi.nlm.nih.gov/pubmed/23246670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2012.12.003
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