Partial Dominance of a Keratin 14 Mutation in Epidermolysis Bullosa Simplex — Increased Severity of Disease in a Homozygote
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference44 articles.
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2. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis;Bonifas;J Invest Dermatol,1994
3. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities;Bonifas;Science,1991
4. Mutation of a type II keratin gene (K6a) in pachyonychia congenita;Bowden;Nat Genet,1995
5. A human keratin 14 “knockout”: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein;Chan;Genes Dev,1994
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1. A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency;Experimental Dermatology;2020-04-23
2. “Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex;Pediatric Dermatology;2017-04-19
3. Semidominant Inheritance in Epidermolytic Ichthyosis;Journal of Investigative Dermatology;2013-11
4. Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant;Clinical and Experimental Dermatology;2013-06-08
5. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita;Journal of Investigative Dermatology;2012-07
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