Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder of severe juvenile osteoporosis and congenital blindness, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Approximately fifty cases of OPPG have been reported. We report 9 new cas...

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Main Authors: Streeten, Elizabeth A., McBride, Daniel, Puffenberger, Eric, Hoffman, Marc E., Pollin, Toni I., Donnelly, Patrick, Sack, Paul, Morton, Holmes
Format: Artigo
Sprog:Inglês
Udgivet: 2008
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2935289/
https://ncbi.nlm.nih.gov/pubmed/18602879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2008.04.020
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