Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

Germline mutations in telomere biology genes cause dyskeratosis congenita (DC), an inherited bone marrow failure and cancer predisposition syndrome. DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreida...

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Detalles Bibliográficos
Autores principales: Kocak, Hande, Ballew, Bari J., Bisht, Kamlesh, Eggebeen, Rebecca, Hicks, Belynda D., Suman, Shalabh, O’Neil, Adri, Giri, Neelam, Maillard, Ivan, Alter, Blanche P., Keegan, Catherine E., Nandakumar, Jayakrishnan, Savage, Sharon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180972/
https://www.ncbi.nlm.nih.gov/pubmed/25233904
http://dx.doi.org/10.1101/gad.248567.114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180972/
https://www.ncbi.nlm.nih.gov/pubmed/25233904
http://dx.doi.org/10.1101/gad.248567.114

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