Associated Papers
Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY et al.
Journal of Bone and Mineral Metabolism, 2021
Rhizomelia and Impaired Linear Growth in a Girl with Juvenile Paget Disease: The Natural History of the Condition.
Höppner J et al.
Hormone Research in Paediatrics, 2021
Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.
Naot D et al.
Bone, 2020
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
Gottesman GS et al.
American Journal of Medical Genetics. Part A, 2016
Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease.
Naot D et al.
Bone, 2014
Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene).
Polyzos SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation.
Saki F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013
Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
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