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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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| Publicado no: | J Invest Dermatol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4530629/ https://ncbi.nlm.nih.gov/pubmed/25290684 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2014.440 |
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