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skos:definition |
MSH: 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.,NCI: A rare autosomal recessive form of ichthyosis caused by mutations in the SPINK5 gene. Patients have spiky and fragile hair.
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