A novel <i>KRT14</i> null mutation leads to autosomal recessive epidermolysis bullosa simplex-Reference-Cited by-同舟云学术

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

Published:2022-12-22 Issue:4 Volume:48 Page:431-433
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Banner Lauren¹,Cohen Alexa¹,McGrath Lauren¹,Nikbakht Neda¹,South Andrew P¹²³

Affiliation:

1. Department of Dermatology and Cutaneous Biology , Philadelphia, PA , USA

2. The Joan and Joel Rosenbloom Research Center for Fibrotic Diseases , Philadelphia, PA , USA

3. Sidney Kimmel Cancer Center, Thomas Jefferson University , Philadelphia, PA , USA

Abstract

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.

Funder

NCI

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llac129/49145128/llac129.pdf

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