Osteoporosis-pseudoglioma Syndrome
What's New
Last Posted: Mar 10, 2023
- Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.
Astiazarán Mirena C, et al. Genetic testing and molecular biomarkers 2017 0 (12) 742-746 - No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders.
Boudin Eveline, et al. Bone 2013 7 (1) 52-6 - Osteoporosis-pseudoglioma syndrome
From NCATS Genetic and Rare Diseases Information Center - Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
Saarinen Anne, et al. Clinical endocrinology 2010 4 (4) 481-8 - Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.
Koh Jung Min, et al. Journal of Korean medical science 2004 6 (3) 407-12
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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