A Novel Mutation in the Second Half of the Keratin 17 1A Domain in a Large Pedigree with Delayed-Onset Pachyonychia Congenita Type 2
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference23 articles.
1. Mutation of a type II keratin gene (K6a) in pachyonychia congenita;Bowden;Nat Genet,1995
2. Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2;Celebi;J Invest Dermatol,1999
3. Delayed onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16;Connors;Br J Dermatol,2001
4. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2;Covello;Br J Dermatol,1998
5. Keratin17 mutation in pachyonychia congenita type 2 with early-onset sebaceous cysts;Feng;Br J Dermatol,2003
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1. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies;European Journal of Human Genetics;2022-06-09
2. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita;Journal of Investigative Dermatology;2021-12
3. Identification of clinically useful predictive genetic variants in pachyonychia congenita;Clinical and Experimental Dermatology;2021-03-17
4. A systematic review of reported cases of pachyonychia congenita tarda;Clinical and Experimental Dermatology;2019-05-10
5. Steatocystoma multiplex: A case report of a rare entity;Imaging Science in Dentistry;2019
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