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

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作者： Hande,Kocak ^[1] ; Bari J,Ballew ^[2] ; Kamlesh,Bisht ^[3] ; Rebecca,Eggebeen ^[4] ; Belynda D,Hicks ^[4] ; Shalabh,Suman ^[4] ; Adri,O'Neil ^[4] ; Neelam,Giri ^[2] ; NCI DCEG Cancer Genomics Research Laboratory ^[5] ; NCI DCEG Cancer Sequencing Working Group ^[2] ; Ivan,Maillard ^[6] ; Blanche P,Alter ^[3] ; Catherine E,Keegan ^[7] ; Jayakrishnan,Nandakumar ; Sharon A,Savage

作者单位： Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA; ^[1] Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), Rockville, Maryland 20850, USA; ^[2] Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48109, USA; ^[3] Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland 20850, USA; ^[4] Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, USA; Division of Hematology-Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Cell and Developmental Biology, Ann Arbor, Michigan 48109, USA; ^[5] Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA. ^[6] Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), Rockville, Maryland 20850, USA; savagesh@mail.nih.gov jknanda@umich.edu. ^[7]

关键词 ACD Hoyeraal-Hreidarsson syndrome TPP1 dyskeratosis congenita telomerase telomere