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

页码：E110 / E112

页数：3

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