Birt-Hogg-Dube syndrome: Report of a new mutation

被引：5

作者：

Rehman, Habib U. ^{[1
]}

机构：

[1] Regina QuAppelle Hlth Reg, Regina, SK S4P 0W5, Canada

来源：

CANADIAN RESPIRATORY JOURNAL | 2012年 / 19卷 / 03期

关键词：

Fibrofolliculoma; Folliculin; Pneumothorax; Pulmonary cysts; Renal tumour; SPONTANEOUS PNEUMOTHORAX; FAMILIES;

D O I：

10.1155/2012/734985

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Birt-Hogg-Dube syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dube syndrome but is of a type predicted to cause disease.

引用

页码：193 / 195

页数：3

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