Article
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.
Hormone research in paediatrics - 1 Jan 2012
Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine C M, Mäkitie O
Abstract excerpt
BACKGROUND/AIMS: Osteoporosis-pseudoglioma (OPPG) syndrome is a rare disorder characterized by congenital or infancy-onset visual loss and severe juvenile osteoporosis. OPPG is caused by homozygous mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. We present three novel homozygous LRP5 mutations found in 3 unrelated Turkish children with consanguineous parents, along with clinical...
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