Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series

被引：4

作者：

Mariath, Luiza M. ^{[1
]}

Santin, Juliana T. ^{[2
]}

Frantz, Jeanine A. ^{[3
]}

Doriqui, Maria J. R. ^{[4
]}

Schuler-Faccini, Lavinia ^{[1
,5
]}

Kiszewski, Ana E. ^{[6
,7
]}

机构：

[1] Univ Fed Rio Grande do Sul, Postgrad Program Genet & Mol Biol, Porto Alegre, RS, Brazil

[2] Univ Fed Rio Grande do Sul, Postgrad Program Child & Adolescent Hlth, Porto Alegre, RS, Brazil

[3] DEBRA Brasil, Blumenau, Brazil

[4] Hosp Infantil Dr Juvencio Mattos, Sect Med Genet, Sao Luis, Maranhao, Brazil

[5] Inst Nacl Ciencia & Tecnol Genet Med Populac INaG, Porto Alegre, RS, Brazil

[6] Univ Fed Ciencias Saude Porto Alegre, Sect Dermatol, Rua Sarmento Leite,245, Porto Alegre 90050170, RS, Brazil

[7] Irmandade Santa Casa Misericordia Porto Alegre, Hosp Crianca Santo Antonio, Sect Pediat Dermatol, Porto Alegre, RS, Brazil

来源：

CLINICAL GENETICS | 2020年 / 98卷 / 01期

关键词：

D O I：

10.1111/cge.13762

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：99 / 101

页数：3

共 5 条

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[4] An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants [J].

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[5] MECHANOBULLOUS DISEASE OF NEWBORN - BARTS SYNDROME [J].

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