A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency. It is characterised by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or hyper-immunoglobulin E syndrome. Although more than 80 NS-associated pathogenic mutations in the serine peptida...

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Detalles Bibliográficos
Autores principales: Hamza, Nishath, Al Sukaiti, Nashat, Ahmed, Khwater A.M., Romano, Rosa, Gokhale, Uday A., Pan-Hammarström, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8631226/
https://www.ncbi.nlm.nih.gov/pubmed/34888090
http://dx.doi.org/10.18295/squmj.4.2021.047

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