Article
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
The Journal of investigative dermatology - 1 Mar 2015
Heller Elizabeth R, Khan Sikandar G, Kuschal Christiane, Tamura Deborah, DiGiovanna John J, Kraemer Kenneth H
Abstract excerpt
Trichothiodystrophy (TTD) is a rare multisystem disorder, characterized by sulfur-deficient hair with alternating dark and light "tiger tail" banding on polarized light microscopy. TTD is caused by mutations in DNA repair/transcription genes XPD, XPB or TTDA, and in TTDN1, a gene of unknown function. Although most of the TTD patients are photosensitive, patients with TTDN1 mutations were reported to be...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.