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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Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2014
Teme:
Research Paper
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4180972/
https://ncbi.nlm.nih.gov/pubmed/25233904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.248567.114
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