A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis. Issue 12 (18th September 2020)
- Record Type:
- Journal Article
- Title:
- A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis. Issue 12 (18th September 2020)
- Main 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:
- 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. 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.
- Is Part Of:
- Clinical case reports. Volume 8:Issue 12(2020)
- Journal:
- Clinical case reports
- Issue:
- Volume 8:Issue 12(2020)
- Issue Display:
- Volume 8, Issue 12 (2020)
- Year:
- 2020
- Volume:
- 8
- Issue:
- 12
- Issue Sort Value:
- 2020-0008-0012-0000
- Page Start:
- 3078
- Page End:
- 3080
- Publication Date:
- 2020-09-18
- Subjects:
- epidermolytic hyperkeratosis -- epidermolytic ichthyosis -- KRT1 gene -- novel mutation
Medicine -- Periodicals
616.09 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904 ↗ - DOI:
- 10.1002/ccr3.3341 ↗
- Languages:
- English
- ISSNs:
- 2050-0904
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 23378.xml