Is c.1431-12G>A a Common European Mutation of SPINK5? Report of a Patient with Netherton Syndrome

Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the nove...

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Detalles Bibliográficos
Autores principales: Śmigiel, R, Królak-Olejnik, B, Śniegórska, D, Rozensztrauch, A, Szafrańska, A, Sasiadek, MM, Wertheim-Tysarowska, K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343335/
https://www.ncbi.nlm.nih.gov/pubmed/28289593
http://dx.doi.org/10.1515/bjmg-2016-0040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343335/
https://www.ncbi.nlm.nih.gov/pubmed/28289593
http://dx.doi.org/10.1515/bjmg-2016-0040

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