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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Bibliografiska uppgifter
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Cold Spring Harbor Laboratory Press 2014
Ämnen:
Research Paper
Länkar: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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