Ontology highlight
ABSTRACT:
SUBMITTER: Takayama K
PROVIDER: S-EPMC1914548 | biostudies-other | 1996 Feb
REPOSITORIES: biostudies-other
Takayama K K Salazar E P EP Broughton B C BC Lehmann A R AR Sarasin A A Thompson L H LH Weber C A CA
American journal of human genetics 19960201 2
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retardation. Clinical photosensitivity is present in approximately 50% of TTD patients but is not associated with an elevated frequency of cancers. Previous complementation studies show that the photosensitivity in nearly all of the studied patients is due to a defect in the same genetic locus that underlies the cancer-prone ...[more]