A novel heterozygous frameshift mutation in the <i>KRT6A</i> gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.

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作者： Jiali,Liang ^[1] ; Ronghua,Li ^[2] ; Chenmei,Liu ^[1] ; Yan,Cai ^[1] ; Yifei,Liu ^[1] ; Pingjiao,Chen ^[1] ; Kang,Zeng ^[1] ; Changxing,Li ^[1]

作者单位： Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, 510515, China. ^[1] Department of Dermatology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, 362002, China. ^[2]

关键词 Fissured tongue Genodermatosis KRT6A Keratin Pachyonychia congenita

DOI 10.1016/j.heliyon.2024.e27195

PMID 38468954

发布时间 2024-03-13

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Heliyon

2024年10卷5期

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A novel heterozygous frameshift mutation in the <i>KRT6A</i> gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.

Heliyon

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Heliyon

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A novel heterozygous frameshift mutation in the <i>KRT6A</i> gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.

Heliyon

相似文献

Heliyon

相关期刊

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