A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.

Francesca CaroppoElena CamaRoberto SalmasoCinzia BertolinLeonardo SalviatiAnna Belloni Fortina

Published in: Clinical case reports (2020)

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.

Keyphrases

genome wide
genome wide identification
genome wide analysis
transcription factor
gene expression