Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, resulting in a deficiency in its processed protein LEKTI. It is clinically characterized by the triad of congenital ichthyosis, atopic diathesis, and hair shaft abnormalities. The SPINK5 (NM_006846.4): c.1258A...

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Detalles Bibliográficos
Autores principales: Moltrasio, Chiara, Romagnuolo, Maurizio, Riva, Davide, Colavito, Davide, Ferrucci, Silvia Mariel, Marzano, Angelo Valerio, Tadini, Gianluca, Brena, Michela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218509/
https://www.ncbi.nlm.nih.gov/pubmed/37239440
http://dx.doi.org/10.3390/genes14051080

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