"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.
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.
- Photosensitive Trichothiodystrophy
- Photosensitive Trichothiodystrophies
- Trichothiodystrophies, Photosensitive
- Trichothiodystrophy, Photosensitive
- PIBIDS Syndrome
- PIBIDS Syndromes
Trichothiodystrophy, Nonphotosensitive 1
- Trichothiodystrophy, Nonphotosensitive 1
- Nonphotosensitive 1 Trichothiodystrophies
- Nonphotosensitive 1 Trichothiodystrophy
- Trichothiodystrophies, Nonphotosensitive 1
- IBIDS Syndrome
- Trichothiodystrophy with Congenital Ichtyosis
- Tay Syndrome
- Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation
- Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature
Below are MeSH descriptors whose meaning is more general than "Trichothiodystrophy Syndromes".
Below are MeSH descriptors whose meaning is more specific than "Trichothiodystrophy Syndromes".
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