Open AccessA novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
Author(s) -
Caroppo Francesca,
Cama Elena,
Salmaso Roberto,
Bertolin Cinzia,
Salviati Leonardo,
Belloni Fortina Anna
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3341
Subject(s) - genodermatosis , epidermolytic hyperkeratosis , medicine , ichthyosis , dermatology , point mutation , mutation , keratin , genetics , gene , hyperkeratosis , biology , pathology
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.