“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex-Reference-Cited by-同舟云学术

“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex

Published:2017-04-19 Issue:4 Volume:34 Page:e205-e206
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

González-Cantero Álvaro¹^ORCID,Sánchez-Moya Ana Isabel¹,Pérez-Hortet Cristina¹,Martínez-Lorenzo Elena¹,Gómez-Dorado Blas¹,Schoendorff-Ortega Cristina¹

Affiliation:

1. Department of Dermatology; Complejo Hospitalario de Toledo; Toledo Spain

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13146/fullpdf

Reference5 articles.

1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

2. Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex;Ołdak;J Dermatol Sci,2011

3. Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly;Yasukawa;J Biol Chem,2002

4. Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex-increased severity of disease in a homozygote;Hu;J Invest Dermatol,1997

5. Nail involvement in epidermolysis bullosa;Tosti;Dermatol Clin,2010

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1. Pediatric Nail Disorders;Skin Appendage Disorders;2024-05-22

2. Nail involvement in patients with epidermolysis bullosa: A systematic review;Skin Health and Disease;2022-11-10

3. A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex;JAAD Case Reports;2019-07