Loss of Functional Osteoprotegerin: More Than a Skeletal Problem | Zendy

Corinna Grasemann | Zendy; Nicole Unger | Zendy; M. Hövel | Zendy; Diana ArweilerHarbeck | Zendy; Ralf Herrmann | Zendy; Michael M. Schündeln | Zendy; Oliver J. Müller | Zendy; Bernd Schweiger | Zendy; Ekkehart Lausch | Zendy; Thomas Meißner | Zendy; Cordula Kiewert | Zendy; Berthold P. Hauffa | Zendy; Nick J. Shaw | Zendy

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Loss of Functional Osteoprotegerin: More Than a Skeletal Problem

Author(s) -

Corinna Grasemann,

Nicole Unger,

M. Hövel,

Diana ArweilerHarbeck,

Ralf Herrmann,

Michael M. Schündeln,

Oliver J. Müller,

Bernd Schweiger,

Ekkehart Lausch,

Thomas Meißner,

Cordula Kiewert,

Berthold P. Hauffa,

Nick J. Shaw

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2905

Subject(s) - medicine , short stature , osteopenia , hearing loss , osteopetrosis , bone remodeling , endocrinology , pediatrics , osteoporosis , audiology , bone mineral

Juvenile Paget's disease (JPD), an ultra-rare, debilitating bone disease due to loss of functional osteoprotegerin (OPG), is caused by recessive mutations in TNFRFSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.

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