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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.
Graniel JV, Bisht K, Friedman A, White J, Perkey E, Vanderbeck A, Moroz A, Carrington LJ, Brandstadter JD, Allen F, Shami AN, Thomas P, Crayton A, Manzor M, Mychalowych A, Chase J, Hammoud SS, Keegan CE, Maillard I, Nandakumar J. Graniel JV, et al. Life Sci Alliance. 2021 Oct 13;5(1):e202101208. doi: 10.26508/lsa.202101208. Print 2022 Jan. Life Sci Alliance. 2021. PMID: 34645668 Free PMC article.
28 results