A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations

被引：0

作者：

Liu, Yu -Ling ^{[1
]}

Zhang, Zeng-Yun-Ou ^{[1
]}

Chen, Xiao-Mei ^{[1
,2
]}

机构：

[1] Sichuan Univ, West China Hosp, Dept Dermatol & Venerol, Chengdu, Peoples R China

[2] Sichuan Univ, West China Hosp, Dept Dermatol, Chengdu, Peoples R China

来源：

CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY | 2024年 / 17卷

关键词：

proteinosis; lipoid; multigene panel testing; ECM1; gene; CALCIFICATIONS;

D O I：

10.2147/CCID.S452127

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Lipoid proteinosis (LP) is an uncommon, autosomal recessive genetic disorder. Multigene panel testing was conducted to confirm the diagnosis of a sporadic family with suspected LP. In the proband, we identified two mutations of ECMI and provided genetic evidence for informed genetic counselling.

引用

页码：885 / 889

页数：5

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