WebNational Center for Biotechnology Information WebDyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, but these components do not always occur. DKC is characterized by short …
Dyskeratosis congenita - Wikipedia
http://genome.cse.ucsc.edu/cgi-bin/hgGene?hgsid=1603887435_O4dGQStIG3LW80t777ruAyYcr6WT&hgg_section_links_close=1 WebMar 11, 2024 · Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes ar e responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical city of johannesburg public safety vacancies
VCV000038947.3 - ClinVar - NCBI - National Center for …
WebDyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and … WebMDSs and AMLs can occur in the context of syndromic bone marrow failure (eg. dyskeratosis congenita, Fanconi anemia). Other hereditary syndromes with an increased risk of leukemia include Li-Fraumeni syndrome ( TP53 ), ataxia telangiectasia ( ATM ), Bloom syndrome ( BLM ), neurofibromatosis type 1 ( NF1 ) and less frequently Noonan … WebDyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic … do nurse anesthetist intubate