Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation

被引：31

作者：

Loffeld, A. ^{[1
]}

McLellan, N. J.

Cole, T.

Payne, S. J.

Fricker, D.

Moss, C.

机构：

[1] Birmingham Childrens Hosp, Birmingham B4 6NL, W Midlands, England

[2] Birmingham Womens Healthcase NHS Trust, Clin Genet Unit, Birmingham, W Midlands, England

[3] NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow, Middx, England

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 154卷 / 06期

关键词：

loss of heterozygosity; Proteus syndrome; PTEN;

D O I：

10.1111/j.1365-2133.2006.07196.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

A 3-year-old boy with Proteus syndrome has a novel germline p.Y68D mutation of the PTEN gene inherited from his mother who has Cowden syndrome. In addition, DNA extracted from curettings of his widespread epidermal naevus shows loss of heterozygosity for this mutation. To our knowledge, this has not been described before.

引用

页码：1194 / 1198

页数：5

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