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Article

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.

Bone - 1 Nov 2014

Whyte Michael P, Tau Cristina, McAlister William H, Zhang Xiafang, Novack Deborah V, Preliasco Virginia, Santini-Araujo Eduardo, Mumm Steven

Abstract excerpt

Mendelian disorders of RANKL/OPG/RANK signaling feature the extremes of aberrant osteoclastogenesis and cause either osteopetrosis or rapid turnover skeletal disease. The patients with autosomal dominant accelerated bone remodeling have familial expansile osteolysis, early-onset Paget's disease of bone, expansile skeletal hyperphosphatasia, or panostotic expansile bone disease due to heterozygous 18-, 27-, 15-,...

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Identifiers

PMID: 25063546
DOI: 10.1016/j.bone.2014.07.019
PMCID: PMC4189967

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.PMID 25063546Read ↗

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Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene.Semantic proximity Read ↗

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.Semantic proximity Read ↗

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.Semantic proximity Read ↗

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.Semantic proximity Read ↗

Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.Semantic proximity Read ↗

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