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osteoporosis autosomal dominant type 2
- ... LRP5 gene may influence the risk of developing osteoporosis in adulthood. Other ... type 1 and autosomal dominant osteosclerosis. In some cases, ...
- ... condition. NOTCH2 ... dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Arthro-dento- ...
- ... CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7 ...
- ... the CASR gene can cause a condition called autosomal dominant hypocalcemia type 1, which is characterized by low levels of ... sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430. ...
- ... unknown. CDC73 ... Genetic Testing Registry: Hyperparathyroidism 2 with jaw tumors ...
- ... Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in ... synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. ...
- Mineral and Bone Disorder in Chronic Kidney Disease (National Institute of Diabetes and Digestive and Kidney Diseases)Chronic Kidney Disease/Related Issues ... Chronic Kidney Disease ... Dialysis/Related Issues ... Dialysis ... Parathyroid Disorders/Related Issues ... Parathyroid Disorders ... Kidney ...
- ... Most of these disorders are inherited in an autosomal dominant pattern, which means one copy of the altered ...