Condition: Osteoporosis with pseudoglioma


rs121908664 in LRP5 gene and Osteoporosis with pseudoglioma PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 16679074 2006 A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

PMID 17437160 2007 A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

PMID 18602879 2008 Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

PMID 16252235 2005 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.