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Nethertonov syndróm

  1. Subject h.Nethertonov syndróm
    Subject h.Netherton Syndrome
    Entry termsNethertonova choroba
    English X referencesNetherton Disease
    Scope note in EnglishRare 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.
    See also reference (FX) in Slovak inhibítory serínových peptidáz Kazalovho typu 5
    See also reference (FX) in English Serine Peptidase Inhibitor Kazal-Type 5
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    (1) - MeSH descriptor
    (1) - CiBaMed
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Number of the records: 1  

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