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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood
Dyskeratosis congenita (DC) is a telomere-biology disorder characterized by a mucocutaneous triad, aplastic anemia, and predisposition to cancer. Mutations in a narrow segment of TINF2 exon 6 have been recognized to cause often-severe DC that is either sporadic or autosomal dominant. We describe thr...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3844870/ https://ncbi.nlm.nih.gov/pubmed/21477109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01658.x |
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