Ontology highlight
ABSTRACT:
SUBMITTER: Vulliamy T
PROVIDER: S-EPMC3654171 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Vulliamy T T Beswick R R Kirwan M J MJ Hossain U U Walne A J AJ Dokal I I
Clinical genetics 20110104 1
Dyskeratosis congenita (DC) is a heterogeneous bone marrow failure syndrome with seven disease-causing genes identified to date, six of which are linked to telomere maintenance. Mutations in one of these genes (TINF2), which encodes a component of the shelterin complex, are associated with particularly short telomeres. Among the 224 consecutive patients with different forms of bone marrow failure (46 with DC, 122 with aplastic anaemia and 57 with some features of DC), we have identified 16 new f ...[more]