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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using whole-exome s...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3591859/ https://ncbi.nlm.nih.gov/pubmed/23453664 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.02.001 |
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