Novel splice site mutation at the C-terminal of SPINK5 cause a unique Netherton syndrome phenotype mimicking pustular psoriasis.

Subjects

Subjects :

Humans
Phenotype
Mutation
Serine Peptidase Inhibitor Kazal-Type 5 genetics
Netherton Syndrome diagnosis
Netherton Syndrome genetics
Psoriasis genetics
Skin Diseases, Vesiculobullous

Details

Language :

English

ISSN :

1468-3083

Volume :

37

Issue :

1

Database :

MEDLINE

Journal :

Journal of the European Academy of Dermatology and Venereology : JEADV

Publication Type :

Report

Accession number :

36165187

Full Text :

https://doi.org/10.1111/jdv.18606