Ontology highlight
ABSTRACT:
SUBMITTER: Savage SA
PROVIDER: S-EPMC2427222 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Savage Sharon A SA Giri Neelam N Baerlocher Gabriela M GM Orr Nick N Lansdorp Peter M PM Alter Blanche P BP
American journal of human genetics 20080131 2
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomere phenotype and a highly penetrant, rare disease model, a linkage scan was performed on a family with autosomal-dominant DC and no mutations in DKCI, TERC, or TERT. Evidence favorin ...[more]