Article
An update on the biology and management of dyskeratosis congenita and related telomere biology disorders
2019-09-03
Abstract excerpt
Introduction: Telomere biology disorders (TBDs) encompass a group of illnesses caused by germline mutations in genes regulating telomere maintenance, resulting in very short telomeres. Possible TBD manifestations range from complex multisystem disorders with onset in childhood such as dyskeratosis congenita (DC), Hoyeraal-Hreidarsson syndrome, Revesz syndrome and Coats plus to adults presenting with one or two DC-...
Topics
Open a Topic to create a Post that cites this publication.
Identifiers and source
- Literature Corpus work
- a6f0503e-aa96-532c-992b-e20c9f284f92
- DOI
- 10.1080/17474086.2019.1662720