A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex

Pediatric Blood and Cancer

Volumn 60, Issue 6, 2013, Pages

  Vogiatzi, Paraskevi ^a   Perdigones, Nieves ^a   Mason, Philip J ^a   Wilson, David B ^b   Bessler, Monica ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Aplastic anemia; Bone marrow failure; Dyskeratosis congenita; Telomerase; Telomere

Indexed keywords

AFRICAN AMERICAN; ARTICLE; CASE REPORT; DKC1 GENE; DYSKERATOSIS CONGENITA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HOYERAAL HREIDARSSON SYNDROME; HUMAN; PRIORITY JOURNAL; TELOMERE; TERT GENE;

EID: 84876427207     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24389     Document Type: Article

References (9)

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