The Variant C.274a>g (p.asn92asp) in KRT17 in a Patient with Pachyonychia Congenita and a Novel Clinical Feature of Acne Inversa

Huaiyu Wang,Changhua Zhu, Linxin Dong, Baofeng Wu,Jingjing Liu,Lihang Lin, Daoyao Lin, Xiangqi Chen,Xuemin Xiao

FRONTIERS IN GENETICS（2024）

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Key words

pachyonychia congenita,acne inversa,KRT17 gene,mutation,whole-exome sequencing,Notch,PI3K,AKT

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