1.
Pediatr Dermatol
; 29(4): 521-2, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21692842
RESUMO
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.