osteopetrosis, autosomal recessive, type 7

A rare inherited bone disorder (OMIM:612301) characterised by dense bone due to defective resorption of immature bone. It has two forms: severe autosomal recessive form of early onset (in utero, infancy or childhood), and a benign autosomal dominant form first appearing in adolescence or adulthood. OPTB7 is associated with hypogammaglobulinaemia.
Molecular pathology
Caused by defects in TNFRSF11A, which encodes a member of the TNF receptor that is essential for RANKL-mediated osteoclastogenesis.

单词	osteopetrosis, autosomal recessive, type 7
释义	osteopetrosis, autosomal recessive, type 7 osteopetrosis, autosomal recessive, type 7 A rare inherited bone disorder (OMIM:612301) characterised by dense bone due to defective resorption of immature bone. It has two forms: severe autosomal recessive form of early onset (in utero, infancy or childhood), and a benign autosomal dominant form first appearing in adolescence or adulthood. OPTB7 is associated with hypogammaglobulinaemia. Molecular pathology Caused by defects in TNFRSF11A, which encodes a member of the TNF receptor that is essential for RANKL-mediated osteoclastogenesis.
随便看	fermenting vat fermentitious fermentive fermentnaia i spirtovaia promyshlennost ferment oil ferment oils fermentologist fermentology fermentor fermentors ferments ferme ornee ferme ornée fermerere ferme ta gueule fermet's last theorem fermeture fermeture bâtiment du roussillon fermeture de tahiti fermeture du bois du pin fermeture et clôture particulier professionnel fermeture et électricité du bâtiment fermeture générale européenne fermeture menuiserie côte d'azur fermeture pierre berten