Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

被引：8
|
作者：
Diociaiuti, A. [1 ]
Pisaneschi, E. [2 ]
Zambruno, G. [1 ]
Angioni, A. [2 ]
Novelli, A. [2 ]
Boldrini, R. [3 ]
El Hachem, M. [1 ]
机构：
[1] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, Rome, Italy
[2] Bambino Gesu Pediat Hosp, Mol Genet Lab, IRCCS, Rome, Italy
[3] Bambino Gesu Pediat Hosp, Dept Pathol, IRCCS, Rome, Italy
来源：
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2018年 / 32卷 / 03期
关键词：
PHENOTYPIC SPECTRUM; BARRIER; VARIANT; HUMANS; MICE;
D O I：
10.1111/jdv.14618
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：E110 / E112
页数：3
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