A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis

被引：40

作者：

Baris, H. N. ^{[1
,2
]}

Zlotogorski, A. ^{[4
,5
]}

Peretz-Amit, G. ^{[1
]}

Doviner, V. ^{[3
]}

Shohat, M. ^{[1
,2
]}

Reznik-Wolf, H. ^{[6
]}

Pras, E. ^{[2
,6
]}

机构：

[1] Raphael Recanati Genet Inst, Rabin Med Ctr, Beilinson Hosp, IL-49100 Petah Tiqwa, Israel

[2] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[3] Hadassah Hebrew Univ, Med Ctr, Dept Pathol, Jerusalem, Israel

[4] Hadassah Hebrew Univ, Med Ctr, Dept Dermatol, Jerusalem, Israel

[5] Hadassah Hebrew Univ, Med Ctr, Ctr Genet Dis Skin & Hair, Jerusalem, Israel

[6] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2008年 / 159卷 / 06期

关键词：

Clouston syndrome; connexin; 30; GJB6; hidrotic ectodermal dysplasia 2;

D O I：

10.1111/j.1365-2133.2008.08796.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 [皮肤病与性病学];

摘要：

[No abstract available]

引用

页码：1373 / 1376

页数：4

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