Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene

Abstract excerpt

BACKGROUND: Juvenile Paget disease (JPD) is a rare autosomal recessive bone disease characterized by escalated bone metabolism leading to skeletal deformities, susceptibility to fractures, and some extraskeletal findings. This genetic disease is associated with changes in the TNFRSF11B gene encoding osteoprotegerin, an important regulator of osteoresorption. Most published JPD cases have been found to carry...

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