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.
Pozri aj (FX) v slov.
proteín xeroderma pigmentosum skupiny D
Pozri aj (FX) v angl.
Xeroderma Pigmentosum Group D Protein
Odkazy
(1) - heslo MeSH
predmetové heslo
openseadragon
Počet záznamov: 1
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