Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

被引：3

作者：

Diociaiuti, Andrea ^{[1
]}

Angioni, Adriano ^{[2
]}

Pisaneschi, Elisa ^{[2
]}

Margollicci, Maria ^{[3
]}

Boldrini, Renata ^{[3
]}

Alesi, Viola ^{[2
]}

Novelli, Antonio ^{[2
]}

Zambruno, Giovanna ^{[1
]}

El Hachem, May ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, Piazza St Onofrio 4, IT-00165 Rome, Italy

[2] Bambino Gesu Pediat Hosp, IRCCS, Mol Genet Lab, Piazza St Onofrio 4, IT-00165 Rome, Italy

[3] Mol Med & Genet AOU, Siena, Italy

来源：

ACTA DERMATO-VENEREOLOGICA | 2019年 / 99卷 / 09期

关键词：

RECESSIVE ICHTHYOSIS; STEROID SULFATASE; FEMALE;

D O I：

10.2340/00015555-3162

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：828 / 830

页数：3

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