TY - JOUR
T1 - A new SPINK5 mutation in a patient with Netherton syndrome
T2 - A case report
AU - Alpigiani, Maria G.
AU - Salvati, Pietro
AU - Schiaffino, Maria Cristina
AU - Occella, Corrado
AU - Castiglia, Daniela
AU - Covaciu, Claudia
AU - Lorini, Renata
PY - 2012/7
Y1 - 2012/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84856495008&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84856495008&partnerID=8YFLogxK
U2 - 10.1111/j.1525-1470.2011.01525.x
DO - 10.1111/j.1525-1470.2011.01525.x
M3 - Article
C2 - 21692842
AN - SCOPUS:84856495008
SN - 0736-8046
VL - 29
SP - 521
EP - 522
JO - Pediatric Dermatology
JF - Pediatric Dermatology
IS - 4
ER -