A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature-Reference-Cited by-同舟云学术

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

Published:2024-03 Issue:5 Volume:10 Page:e27195
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Liang Jiali^ORCID,Li Ronghua,Liu Chenmei,Cai Yan,Liu Yifei,Chen Pingjiao,Zeng Kang,Li Changxing^ORCID

Funder

Quanzhou City Science and Technology Program

National Natural Science Foundation of China

Natural Science Foundation of Guangdong Province

Publisher

Elsevier BV

Reference31 articles.

1. Pachyonychia congenita;Jadassohn;Ikonographia dermatologica,1906

2. Pachyonychia congenita;Feinstein;J. Am. Acad. Dermatol.,1988

3. Pachyonychia congenita tarda;Lucker;Clin. Exp. Dermatol.,1995

4. Pachyonychia congenita tarda;Mouaci-Midoun;J. Am. Acad. Dermatol.,1996

5. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21;Munro;J. Med. Genet.,1994

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