Ontology highlight
ABSTRACT:
SUBMITTER: Kocak H
PROVIDER: S-EPMC4180972 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Kocak Hande H Ballew Bari J BJ Bisht Kamlesh K Eggebeen Rebecca R Hicks Belynda D BD Suman Shalabh S O'Neil Adri A Giri Neelam N Maillard Ivan I Alter Blanche P BP Keegan Catherine E CE Nandakumar Jayakrishnan J Savage Sharon A SA
Genes & development 20140918 19
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-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation. Approximately 70% of DC cases are associated with a ...[more]