Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

被引：7

作者：

Callea, M. ^{[1
]}

Willoughby, C. E. ^{[2
]}

Nieminen, P. ^{[3
]}

Di Stazio, M. ^{[4
]}

Bellacchio, E. ^{[5
]}

Giglio, S. ^{[6
,7
]}

Sani, I. ^{[7
]}

Vinciguerra, A. ^{[1
]}

Maglione, M. ^{[4
]}

Tadini, G. ^{[8
,9
]}

Clarich, G. ^{[1
]}

机构：

[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy

[2] Univ Liverpool, Inst Ageing & Chron Dis, Dept Eye & Vis Sci, Liverpool L69 3BX, Merseyside, England

[3] Univ Helsinki, Cent Hosp, Inst Dent, Dept Oral & Maxillofacial Dis, Helsinki, Finland

[4] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy

[5] Bambino Gesu Pediat Hosp, IRCCS, Res Lab, Rome, Italy

[6] Univ Florence, Med Genet Sect, Dept Clin Pathophysiol, Florence, Italy

[7] Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy

[8] Osped Maggiore, Policlin Milano, Fdn IRCCS Ca Granda, Milan, Italy

[9] Univ Milan, Dept Pediat Dermatol, Milan, Italy

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2015年 / 29卷 / 05期

关键词：

INTRALYMPHATIC HISTIOCYTOSIS; METAL IMPLANTS;

D O I：

10.1111/jdv.12457

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：1032 / 1034

页数：3

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