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Article

Familial Paget disease and SQSTM1 mutations in New Zealand.

Calcified tissue international - 1 Sept 2011

Cundy Tim, Naot Dorit, Bava Usha, Musson David, Tong Pak Cheung, Bolland Mark

Abstract excerpt

Genetic factors play an important role in the pathogenesis of Paget disease of bone (PDB). SQSTM1 is the most important disease-associated gene identified to date. We investigated the relationship of family history, phenotype, and SQSTM1 mutation status in New Zealand (a country with a high prevalence of PDB) in patients with a family history and/or a severe phenotype. We studied 61 unrelated subjects with...

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Source

Identifiers

PMID: 21735147
DOI: 10.1007/s00223-011-9514-0

Genes

SQSTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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