A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

被引：9

作者：

Bitar, F. ^{[1
]}

Najjar, T. ^{[2
]}

Hayashi, R. ^{[3
]}

Nemer, G. ^{[4
]}

Shigehara, Y. ^{[3
]}

Hamie, L. ^{[5
]}

Abbas, O. ^{[6
]}

Kibbi, A. G. ^{[6
]}

Shimomura, Y. ^{[3
]}

Kurban, M. ^{[4
,6
,7
]}

机构：

[1] Amer Univ Beirut, Med Ctr, Childrens Heart Ctr, Div Pediat Cardiol, Beirut, Lebanon

[2] Amer Univ Beirut, Beirut, Lebanon

[3] Niigata Univ, Grad Sch Med & Dent Sci, Div Dermatol, Niigata, Japan

[4] Amer Univ Beirut, Med Ctr, Dept Biochem & Mol Genet, Beirut, Lebanon

[5] Amer Univ Beirut, Med Ctr, Beirut, Lebanon

[6] Amer Univ Beirut, Med Ctr, Dept Dermatol, Beirut, Lebanon

[7] Columbia Univ, Dept Dermatol, New York, NY USA

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2016年 / 30卷 / 12期

关键词：

WOOLLY HAIR; PALMOPLANTAR KERATODERMA; DILATED CARDIOMYOPATHY;

D O I：

10.1111/jdv.13549

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：E217 / E219

页数：3

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