Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
Author:
Affiliation:
1. Department of Dermatology Nanfang Hospital, Southern Medical University Guangzhou China
2. BGI Genomics, BGI‐Shenzhen Shenzhen China
3. Department of Dermatology Guangzhou Institute of Dermatology Guangzhou China
Funder
Southern Medical University
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.703
Reference19 articles.
1. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma;Austin S. W.;Dermatology Online Journal,2016
2. Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma
3. A Novel Mutation of a Leucine Residue in Coil 1A of Keratin 9 in Epidermolytic Palmoplantar Keratoderma
4. Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma
5. Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9
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1. Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders;Journal of Proteomics;2023-09
2. Transcriptome Analysis of Host Inflammatory Responses to the Ectoparasitic Mite Sarcoptes scabiei var. hominis;Frontiers in Immunology;2021-12-01
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