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

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.

Detalles Bibliográficos
Autores principales: Caroppo, Francesca, Cama, Elena, Salmaso, Roberto, Bertolin, Cinzia, Salviati, Leonardo, Belloni Fortina, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752546/
https://www.ncbi.nlm.nih.gov/pubmed/33363884
http://dx.doi.org/10.1002/ccr3.3341
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author Caroppo, Francesca
Cama, Elena
Salmaso, Roberto
Bertolin, Cinzia
Salviati, Leonardo
Belloni Fortina, Anna
author_facet Caroppo, Francesca
Cama, Elena
Salmaso, Roberto
Bertolin, Cinzia
Salviati, Leonardo
Belloni Fortina, Anna
author_sort Caroppo, Francesca
collection PubMed
description 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.
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spelling pubmed-77525462020-12-23 A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis Caroppo, Francesca Cama, Elena Salmaso, Roberto Bertolin, Cinzia Salviati, Leonardo Belloni Fortina, Anna Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-09-18 /pmc/articles/PMC7752546/ /pubmed/33363884 http://dx.doi.org/10.1002/ccr3.3341 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Caroppo, Francesca
Cama, Elena
Salmaso, Roberto
Bertolin, Cinzia
Salviati, Leonardo
Belloni Fortina, Anna
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
title A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
title_full A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
title_fullStr A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
title_full_unstemmed A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
title_short A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis
title_sort novel krt1 c.1433a>g p.(glu478gly) mutation in a newborn with epidermolytic ichthyosis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752546/
https://www.ncbi.nlm.nih.gov/pubmed/33363884
http://dx.doi.org/10.1002/ccr3.3341
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