WebThe majority of variants cluster in the pseudoknot domain. Patients harboring heterozygous TERC variants can present with a variety of phenotypes including dyskeratosis congenita, aplastic anemia, myelodysplastic syndrome/leukemia, and pulmonary disease. These variants refer to patients enrolled on the Dyskeratosis Congenita Registry in London. WebNational Center for Biotechnology Information

Dyskeratosis Congenita in Children Cedars-Sinai

WebDyskeratosis congenita is a disorder of poor telomere maintenance mainly due to a number of gene mutations that give rise to abnormal ribosome function, termed … WebDyskeratosis congenita is a congenital disease. This means it is present at birth. It affects the skin and nails. In its most severe form, it causes bone marrow failure. Symptoms can … dynamic offset comparator

Dyskeratosis congenita - PMC - National Center for …

WebDyskeratosis congenita is a congenital disease. This means it is present at birth. It affects the skin and nails. In its most severe form, it causes bone marrow failure. Symptoms can … WebFeb 8, 2014 · ZinsserCole-Engman syndrome, also known as dyskeratosis congenita, is a rare genetic disorder characterized by triad of pigmentation and atrophy of the skin, leukokeratoses of oral mucosa and nail dystrophy along with bone marrow failure and predisposition to cancer [1]. WebJun 25, 2009 · Abstract. Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this disorder of telomere biology has not been described. There were more than 500 cases of DC reported in the literature from 1910 to 2008; the National Cancer Institute (NCI) prospective DC cohort enrolled 50 … crystal view 301 destin florida