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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.
推出的年份: 2010
副标题
树号: C16.131.077.619, C16.131.831.512.400.705, C16.320.850.673, C16.614.492.400.705, C17.800.428.333.250.705, C17.800.804.512.400.705, C17.800.827.655
MeSH 单一 ID: D056770
进入的组:
  • Netherton Disease
早前的内容:
  • Ichthyosiform Erythroderma, Congenital (1992-2009)

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