Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC en...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Karger Publishers
2015-08-01
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| Serier: | Case Reports in Dermatology |
| Fag: | |
| Online adgang: | http://www.karger.com/Article/FullText/439042 |
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