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Netherton Syndrome

"Netherton Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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.


This graph shows the total number of publications written about "Netherton Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Netherton Syndrome" was a major or minor topic of these publication.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 2012 and 2020
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.