Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/7122
Title: Netherton syndrome: a neonatal case with respiratory insufficiency
Authors: Okulu, Emel
Tunç, Gaffari
Erdeve, Ömer
Mumcu, Yelda
Ataşay, Begüm
İnce, Erdal
Arsan, Saadet
Keywords: Infant newborn
Netherton syndrome
respiratory insufficiency
Issue Date: 2018
Publisher: Soc Argentina Pediatria
Abstract: Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.
URI: https://doi.org/10.5546/aap.2018.eng.e609
https://hdl.handle.net/20.500.11851/7122
ISSN: 0325-0075
1668-3501
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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