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Article

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

Journal of bone and mineral metabolism - 1 Jan 2007

Elahi Elahe, Shafaghati Yousef, Asadi Sareh, Absalan Farnaz, Goodarzi Hani, Gharaii Nava, Karimi-Nejad Mohammad Hassan, Shahram Farhad, Hughes Anne E

Abstract excerpt

Familial expansile osteolysis (FEO) is a rare disorder causing bone dysplasia. The clinical features of FEO include early-onset hearing loss, tooth destruction, and progressive lytic expansion within limb bones causing pain, fracture, and deformity. An 18-bp duplication in the first exon of the T...

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PMID: 17447113
DOI: 10.1007/s00774-007-0748-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17447113-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.PMID 17447113Read ↗

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

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