Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma

被引：11

作者：

Furniss, Megan ^{[1
]}

Higgins, Claire A. ^{[1
]}

Martinez-Mir, Amalia ^{[1
]}

Horev, Liran ^{[2
]}

Petukhova, Lynn ^{[1
,3
]}

Stanimirovic, Andrija ^{[4
]}

Miljkovic, Jovan ^{[5
]}

Zlotogorski, Abraham ^{[2
]}

Christiano, Angela M. ^{[1
,6
]}

机构：

[1] Columbia Univ, Dept Dermatol, New York, NY 10027 USA

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

[3] Columbia Univ, Dept Epidemiol, New York, NY 10027 USA

[4] Univ Appl Hlth Sci, Dept Clin Med, Zagreb, Croatia

[5] Univ Maribor, Dept Dermatol, SLO-2000 Maribor, Slovenia

[6] Columbia Univ, Dept Genet & Dev, New York, NY 10027 USA

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2014年 / 134卷 / 06期

关键词：

BUSCHKE-FISCHER-BRAUER;

D O I：

10.1038/jid.2014.4

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：1749 / 1752

页数：4

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