osteoporosis-pseudoglioma syndrome
Etiology
LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype (#12579474#)
References
Audrey Koay M, Brown MA. Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton. Trends Mol Med. 2005 Mar;11(3):129-37. PMID: #15760771#
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