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...

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Detalles Bibliográficos
Autores principales: Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591859/
https://www.ncbi.nlm.nih.gov/pubmed/23453664
http://dx.doi.org/10.1016/j.ajhg.2013.02.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591859/
https://www.ncbi.nlm.nih.gov/pubmed/23453664
http://dx.doi.org/10.1016/j.ajhg.2013.02.001

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