A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report
Article first published online: 22 JUN 2011
© 2011 Wiley Periodicals, Inc.
Volume 29, Issue 4, pages 521–522, July/August 2012
How to Cite
Alpigiani, M. G., Salvati, P., Schiaffino, M. C., Occella, C., Castiglia, D., Covaciu, C. and Lorini, R. (2012), A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report. Pediatric Dermatology, 29: 521–522. doi: 10.1111/j.1525-1470.2011.01525.x
- Issue published online: 3 JUL 2012
- Article first published online: 22 JUN 2011
Abstract: 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.