Loading...
Header Logo

Please contact mskhan2@childrensnational.org for any questions. Can't find your name in profiles ? Request a Profile

Keywords
Last Name
Institution

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.

expand / collapse MeSH information
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.


expand / collapse publications
This graph shows the total number of publications written about "Trichothiodystrophy Syndromes" by people in this website by year, and whether "Trichothiodystrophy Syndromes" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_