Article
Loss of Functional Osteoprotegerin: More Than a Skeletal Problem.
The Journal of clinical endocrinology and metabolism - 1 Jan 2017
Grasemann Corinna, Unger Nicole, Hövel Matthias, Arweiler-Harbeck Diana, Herrmann Ralf, Schündeln Michael M, Müller Oliver, Schweiger Bernd, Lausch Ekkehart, Meissner Thomas, Kiewert Cordula, Hauffa Berthold P, Shaw Nick J
Abstract excerpt
Introduction: 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. Aim: This study aimed to describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation...
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