A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report

Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secretion and generalized erythema on his body. Netherton...

Descripción completa

Detalles Bibliográficos
Autores principales: Erden, E, Ceylan, AC, Emre, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474220/
https://www.ncbi.nlm.nih.gov/pubmed/32953415
http://dx.doi.org/10.2478/bjmg-2020-0012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474220/
https://www.ncbi.nlm.nih.gov/pubmed/32953415
http://dx.doi.org/10.2478/bjmg-2020-0012

Ejemplares similares