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
收藏
页码：1032 / 1034
页数：3
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