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Article

Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2007

Bolland Mark J, Tong Pak Cheung, Naot Dorit, Callon Karen E, Wattie Diana J, Gamble Greg D, Cundy Tim

Abstract excerpt

UNLABELLED: Familial Paget's disease is associated with mutations in SQSTM1. We compared the age at diagnosis and severity of Paget's disease in parents with SQSTM1 mutations to their offspring who inherited a mutation. At any given age, the offspring were less likely to be diagnosed with Paget's disease and had less severe disease than their parents. INTRODUCTION: Mutations in sequestosome 1 (SQSTM1) occur in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17181397
DOI: 10.1359/jbmr.061204

Genes

SQSTM1

Provenance

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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Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations.PMID 17181397Read ↗

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Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.Semantic proximity Read ↗

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