Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype

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...

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Detalles Bibliográficos
Autores principales: Heller, Elizabeth R., Khan, Sikandar G., Kuschal, Christiane, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530629/
https://www.ncbi.nlm.nih.gov/pubmed/25290684
http://dx.doi.org/10.1038/jid.2014.440

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530629/
https://www.ncbi.nlm.nih.gov/pubmed/25290684
http://dx.doi.org/10.1038/jid.2014.440

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