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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2014
Témata:
Research Paper
On-line přístup: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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