Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

被引：9

作者：

El Hachem, May ^{[1
]}

Barresi, Sabina ^{[1
]}

Diociaiuti, Andrea ^{[1
]}

Boldrini, Renata ^{[2
]}

Condorelli, Angelo Giuseppe ^{[1
]}

Capoluongo, Ettore ^{[3
,4
]}

Proto, Vittoria ^{[5
]}

Scuvera, Giulietta ^{[6
]}

Has, Cristina ^{[7
]}

Tartaglia, Marco ^{[1
]}

Castiglia, Daniele

机构：

[1] Bambino Gesu Childrens Hosp IRCCS, Genet & Rare Dis Res Div, Piazza S Onofrio 4, IT-00165 Rome, Italy

[2] Bambino Gesu Childrens Hosp IRCCS, Div Pathol, Piazza S Onofrio 4, IT-00165 Rome, Italy

[3] IDI IRCCS, Ist Dermopat Immacolata, Lab Clin Pathol & Adv Mol Diagnost, Rome, Italy

[4] Univ Cattolica Sacro Cuore, Fdn Policlin Univ Agostino Gemelli, Rome, Italy

[5] IDI IRCCS, Lab Mol & Cell Biol, Ist Dermopat Immacolata, Rome, Italy

[6] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Pediat Highly Intens Care Unit, Milan, Italy

[7] Univ Med Ctr, Dept Dermatol, Freiburg, Germany

来源：

ACTA DERMATO-VENEREOLOGICA | 2019年 / 99卷 / 02期

关键词：

D O I：

10.2340/00015555-3046

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：238 / 239

页数：2

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