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- Title
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
- Authors
Caroppo, Francesca; Cama, Elena; Salmaso, Roberto; Bertolin, Cinzia; Salviati, Leonardo; Belloni Fortina, Anna
- Abstract
Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
- Subjects
ICHTHYOSIS; GENETIC mutation; KERATIN
- Publication
Clinical Case Reports, 2020, Vol 8, Issue 12, p3079
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.3341