Definitions of netherton syndrome

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Definition of 'netherton syndrome'

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.

'netherton syndrome' - Nearby Entries
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