Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID)

被引：29

作者：

Kosaki, K

Shimasaki, N

Fukushima, H

Hara, M

Ogata, T

Matsuo, N

机构：

[1] Keio Univ, Sch Med, Dept Pediat, Div Med Genet,Shinjuku Ku, Tokyo 1608582, Japan

[2] Keio Univ, Sch Med, Pharmacia Fund Growth & Dev Res, Tokyo 1608582, Japan

[3] Shimizu City Hosp, Shimizu, Shizuoka, Japan

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 03期

关键词：

D O I：

10.1086/323003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：664 / 665

页数：2

共 6 条

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[6] A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO) [J].

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