Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features. Approximately 50% of DC patients remain genetically uncharacterized. All the D...

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Detalles Bibliográficos
Autores principales: Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957322/
https://www.ncbi.nlm.nih.gov/pubmed/20817924
http://dx.doi.org/10.1093/hmg/ddq371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957322/
https://www.ncbi.nlm.nih.gov/pubmed/20817924
http://dx.doi.org/10.1093/hmg/ddq371

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