A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.
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Dias da Silva
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D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D005124:Eye Abnormalities / Q000235:genetics; D005910:Glioma / Q000235:genetics*; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics*; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008297:Male; D020125:Mutation, Missense; D010024:Osteoporosis / Q000235:genetics*; D013577:Syndrome
D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5