A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

Maria G. Alpigiani,Pietro Salvati,M. C. Schiaffino,Corrado Occella,Daniela Castiglia,Claudia Covaciu,Renata Lorini

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

2012

Maria G. Alpigiani
Pietro Salvati
M. C. Schiaffino
Corrado Occella
Daniela Castiglia
Claudia Covaciu
Renata Lorini

: We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.

Keywords:

Dermatology
Gene duplication
Medicine
Netherton syndrome
Mutation
Biotinidase
Pediatrics
Exon

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