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Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
Dyskeratosis congenita is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance accounts for half the cases, and is thought to predominantly manifest in childhood as bone marrow failure. We identified two male probands who presented in the fifth decade with...
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| Hauptverfasser: | , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3926107/ https://ncbi.nlm.nih.gov/pubmed/23946118 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22397 |
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