The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa

The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa

IntroductionThe occurrence of pachyonychia congenita (PC) and acne inversa (AI) may be related to gene mutations. The aim of this study is to identify the genetic cause in a patient with PC and AI, and to explore the possible molecular mechanism of their co-occurrence.MethodsThe clinical data of the...

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Main Authors: Huaiyu Wang, Changhua Zhu, Linxin Dong, Baofeng Wu, Jingjing Liu, Lihang Lin, Daoyao Lin, Xiangqi Chen, Xuemin Xiao
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Genetics
Subjects:
pachyonychia congenita
acne inversa
KRT17 gene
mutation
whole-exome sequencing
Notch
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1365581/full
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