Research paper

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

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Title
Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations
Content partner
The University of Auckland Library
Collection
ResearchSpace@Auckland
Description

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 25–50% of cases of familial Paget's disease and are thought to be disease-causing. We sought to...

Format
Research paper
Research format
Journal article
Date created
2007
Creator
Bolland, Mark / Tong, PC / Naot, Dorit / Callon, KE / Wattie, DJ / Gamble, Gregory / Cundy, Timothy
URL
http://hdl.handle.net/2292/25866
Related subjects
Paget's disease / sequestosome 1 / diagnosis / penetrance

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