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

被引：57

作者：

Bolland, Mark J. ^{[1
]}

Tong, Pak Cheung ^{[1
]}

Naot, Dorit ^{[1
]}

Callon, Karen E. ^{[1
]}

Wattie, Diana J. ^{[1
]}

Gamble, Greg D. ^{[1
]}

Cundy, Tim ^{[1
]}

机构：

[1] Univ Auckland, Dept Med, Osteoporosis Res Grp, Auckland 1, New Zealand

来源：

JOURNAL OF BONE AND MINERAL RESEARCH | 2007年 / 22卷 / 03期

关键词：

Paget's disease; sequestosome; 1; diagnosis; penetrance;

D O I：

10.1359/JBMR.061204

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：411 / 415

页数：5

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