Article
Dyskeratosis Congenita (DC) Registry: identification of new features of DC.
British journal of haematology - 1 Dec 1998
Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I
Abstract excerpt
Dyskeratosis congenita (DC) is an inherited disorder characterized by skin pigmentation, nail dystrophy and mucosal leucoplakia. In 1995 a Dyskeratosis Congenita Registry was established at the Hammersmith Hospital. In the 46 families recruited, 76/83 patients were male, suggesting that the major...
Topics
- Adolescent
- Adult
- Cause of Death
- Child
- Child, Preschool
- Dyskeratosis Congenita
- Female
- Genetic Linkage
- Hematologic Diseases
- Heterozygote
- Humans
- Infant
- Lung Diseases
- Male
- Pedigree
- Phenotype
- Registries
- Sex Factors