Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C

Netherton syndrome (NS, MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mut...

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Principais autores:	Kemal Özyurt, Mustafa Atasoy, Ragıp Ertaş, Yılmaz Ulaş, Muhammed Reşat Akkuş, Aslıhan Kiraz, Hans Christian Hennies
Formato:	Artigo
Idioma:	Inglês
Publicado:	Hacettepe University Institute of Child Health 2019-08-01
Series:	The Turkish Journal of Pediatrics
Assuntos:	Netherton syndrome eczema hyper IgE syndrome ichthyosis serum IgE
Acceso en liña:	https://turkjpediatr.org/article/view/742
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