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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Main Authors: Tejas D Patel (Author), Jigna Krunal Padhiyar (Author), Nayan H Patel (Author), Nishi S Trivedi (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2020-01-01T00:00:00Z.
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3rd Floor Main Library

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