Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant
Author:
Funder
Ministry of Health -Singapore
National Research Foundation Singapore
National Medical Research Council
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference8 articles.
1. Keratin gene mutations in disorders of human skin and its appendages;Chamcheu;Arch. Biochem. Biophys.,2011
2. Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis;Chassaing;J. Invest. Dermatol.,2006
3. A child with epidermolytic ichthyosis from a parent with epidermolytic nevus: risk evaluation of transmission from mosaic to germline;Kono;J. Invest. Dermatol.,2017
4. Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis;Lee;J. Invest. Dermatol.,2002
5. Cathepsin C gene variants in aggressive periodontitis;Noack;J. Dent. Res.,2008
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