Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Osteoporosis-pseudoglioma Syndrome[original query] |
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Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men. Journal of Korean medical science 2004 Jun 19 (3): 407-12. Koh Jung Min, Jung Min Hui, Hong Jeong Soo, Park Hyung Joo, Chang Jae Suk, Shin Hyoung Doo, Kim Shin Yoon, Kim Ghi |
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. Clinical endocrinology 2010 Apr 72 (4): 481-8. Saarinen Anne, Saukkonen Tero, Kivelä Tero, Lahtinen Ulla, Laine Christine, Somer Mirja, Toiviainen-Salo Sanna, Cole William G, Lehesjoki Anna-Elina, Mäkitie Ou |
No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders. Bone 2013 Jul 55 (1): 52-6. Boudin Eveline, Jennes Karen, de Freitas Fenna, Tegay David, Mortier Geert, Van Hul W |
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. Genetic testing and molecular biomarkers 2017 11 21 (12): 742-746. Astiazarán Mirena C, Cervantes-Sodi María, Rebolledo-Enríquez Erick, Chacón-Camacho Oscar, Villegas Vanessa, Zenteno Juan Carl |
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