Definitions for netherton syndrome

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  1. Netherton syndrome

    Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene. It is named after E.W. Netherton.

U.S. National Library of Medicine

  1. Netherton Syndrome

    Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

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