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.
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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 ).
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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.
How to say pseudoglioma in Hindi and what is the meaning of pseudoglioma in Hindi? pseudoglioma Hindi meaning, translation, pronunciation, synonyms and example sentences are provided by Hindlish.com.
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