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Article

Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2003

Nakatsuka Kiyoshi, Nishizawa Yoshiki, Ralston Stuart H

Abstract excerpt

Three different insertion mutations in the TNFRSF11A gene affecting the signal peptide of RANK have been described. An 18-bp duplication at position 84 (84dup18) is associated with the clinical syndrome of familial expansile osteolysis (FEO), whereas a 15-bp duplication at the same site (84dup15) causes the syndrome of expansile skeletal hyperphosphatasia (ESH). Here we report the phenotype of patients harboring...

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Source

Identifiers

PMID: 12929927
DOI: 10.1359/jbmr.2003.18.8.1381

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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.

Related research

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Research trail→

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Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.PMID 12929927Read ↗

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

Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.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 ↗

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

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.Semantic proximity Read ↗

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.Semantic proximity Read ↗

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.Semantic proximity Read ↗

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B geneSemantic proximity Read ↗

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the <i>TNFRSF11A</i> geneSemantic proximity Read ↗

Mechanisms of disease: genetics of Paget's disease of bone and related disorders.Semantic proximity Read ↗

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

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