Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report

• Main Authors: Katya Kovacheva (Author), Zornitza Kamburova (Author), Preslav Vasilev (Author), Ivelina Yordanova (Author)
• Format: Book
• Published: Karger Publishers, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture of ichthyosis linearis circumflexa to exfoliative erythroderma...