A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex

被引：0

作者：

Banner, Lauren ^{[1
]}

Cohen, Alexa ^{[1
]}

McGrath, Lauren ^{[1
]}

Nikbakht, Neda ^{[1
]}

South, Andrew P. ^{[1
,2
,3
]}

机构：

[1] Thomas Jefferson Univ, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19144 USA

[2] Thomas Jefferson Univ, Joan & Joel Rosenbloom Res Ctr Fibrot Dis, Philadelphia, PA 19144 USA

[3] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Philadelphia, PA 19144 USA

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2023年 / 48卷 / 04期

关键词：

D O I：

10.1093/ced/llac129

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We describe a novel homozygous KRT14 (also known as K14) mutation detected in a patient with a relatively mild form of epidermolysis bullosa simplex (EBS). Our patient harbours loss of function of both alleles of the KRT14 gene. This is the 16th reported mutation of recessive EBS in KRT14.

引用

页码：431 / 433

页数：3

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