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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...
Gardado en:
| Publicado en: | Case Rep Dermatol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
S. Karger AG
2015
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4560313/ https://ncbi.nlm.nih.gov/pubmed/26351433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000439042 |
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