A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
KRT1 gene
epidermolytic hyperkeratosis
epidermolytic ichthyosis
novel mutation
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
22
07
2020
accepted:
16
08
2020
entrez:
28
12
2020
pubmed:
29
12
2020
medline:
29
12
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33363884
doi: 10.1002/ccr3.3341
pii: CCR33341
pmc: PMC7752546
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3079-3081Informations de copyright
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
Authors declare no conflict of interests.
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