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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...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Huaiyu Wang, Changhua Zhu, Linxin Dong, Baofeng Wu, Jingjing Liu, Lihang Lin, Daoyao Lin, Xiangqi Chen, Xuemin Xiao
Формат: Artigo
Хэл сонгох:Inglês
Хэвлэсэн: Frontiers Media S.A. 2024-11-01
Цуврал:Frontiers in Genetics
Нөхцлүүд:
Онлайн хандалт:https://www.frontiersin.org/articles/10.3389/fgene.2024.1365581/full
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