Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome

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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Bibliographic Details
Main Authors: Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, Wertheim-Tysarowska K
Format: Article
Language:English
Published: Sciendo 2016-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
mutation
netherton syndrome (ns)
spink5 gene
Online Access:https://doi.org/10.1515/bjmg-2016-0040

Internet

https://doi.org/10.1515/bjmg-2016-0040

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