A case of netherton syndrome with novel mutation in SPINK5 gene expressing incomplete phenotype

Netherton syndrome (NS) is characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. It is also considered a probable primary immunodeficiency as many patients have shown increased tendency for infections and abnormal levels of various immunoglobulins. Primary...

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Hlavní autoři:	Tejas D Patel, Jigna Krunal Padhiyar, Nayan H Patel, Nishi S Trivedi
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wolters Kluwer Medknow Publications 2020-01-01
Edice:	Indian Journal of Paediatric Dermatology
Témata:	netherton syndrome novel mutation phenotype spink5 gene
On-line přístup:	http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=1;spage=73;epage=75;aulast=Patel
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