Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Trichothiodystrophy Syndromes

"Trichothiodystrophy Syndromes" 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.

MeSH information
Definition  |  Details  |  More General Concepts  |  Related Concepts  |  More Specific Concepts
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.


publications
Timeline   |   Most Recent
This graph shows the total number of publications written about "Trichothiodystrophy Syndromes" by people in Harvard Catalyst Profiles by year, and whether "Trichothiodystrophy Syndromes" was a major or minor topic of these publication.
To see the data from this visualization as text,
Related Networks
People
Explore
_
Similar Concepts
_
Top Journals 
_
© 2024 President and Fellows of Harvard College
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.