DESCRIPTION:
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. Generated by gene2mesh v. 1.1.1
LABEL:
Netherton Syndrome
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
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