Article
Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.
The Turkish journal of pediatrics - 1 Jan 2019
Özyurt Kemal, Atasoy Mustafa, Ertaş Ragıp, Ulaş Yılmaz, Akkuş Muhammed Reşat, Kiraz Aslıhan, Hennies Hans Christian
Abstract excerpt
Özyurt K, Atasoy M, Ertaş R, Ulaş Y, Akkuş MR, Kiraz A, Hennies HC. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk J Pediatr 2019; 61: 604-607. Netherton syndrome (NS, MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia,...
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