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

Francesca Caroppo; Elena Cama; Roberto Salmaso; Cinzia Bertolin; Leonardo Salviati; Anna Belloni Fortina

doi:10.1002/ccr3.3341

Clinical Case Reports (Dec 2020)

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

Francesca Caroppo,
Elena Cama,
Roberto Salmaso,
Cinzia Bertolin,
Leonardo Salviati,
Anna Belloni Fortina

Affiliations

Francesca Caroppo: Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy
Elena Cama: Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy
Roberto Salmaso: Surgical Pathology & Cytopathology Unit Department of Medicine DIMED University of Padova Padova Italy
Cinzia Bertolin: Clinical Genetics Unit Department of Women's and Children's Health IRP Città della Speranza University of Padova Padova Italy
Leonardo Salviati: Clinical Genetics Unit Department of Women's and Children's Health IRP Città della Speranza University of Padova Padova Italy
Anna Belloni Fortina: Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy

DOI: https://doi.org/10.1002/ccr3.3341
Journal volume & issue: Vol. 8, no. 12
pp. 3078 – 3080

Abstract

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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.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

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Abstract

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