The Wnt signaling pathway was first linked to bone development when a loss-of-function mutation in LRP5 was found to cause osteoporosis-pseudoglioma syndrome.
2.
Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness that is caused by a vascularized mass behind each lens due to a maldeveloped retina ( pseudoglioma ).
3.
Loss of function mutations in LRP5 have been implicated in Osteoporosis-pseudoglioma syndrome, Familial exudative vitreoretinopathy, and a specific missense mutation in the first ?-propeller region of LRP5 can lead to abnormally high bone density or osteopetrosis.
मोबाइल