X-linked dyskera- tosis congenita: restrictive pulmonary disease and a novel mutation. Thorax. 2001;56(11):891-894.Safa WF, Lestringant GG, Frossard PM. X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. Thorax 2001; 56:891-894...
Dyskeratosis congenita is a heterogeneous inherited bone marrow failure syndrome that is classically characterized by abnormal skin pigmentation, nail dystrophy and leukoplakia. X-linked recessive dyskeratosis congenita is due to mutations in DKC1, which encodes dyskerin. This protein is a key component ...
X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state telomerase RNA (TER...
Dyskeratosis congenita is a rare inherited bone marrow–failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MI...
Dyskeratosis congenita (DC) is an X-linked recessive trait which is characterized by bone marrow failure and a triad of mucosal leukoplakia, nail dystrophy, and abnormal skin pigmentation [12, 30–32]. From: Hematopathology, 2008 Related terms: ...
Dyskeratosis Congenita Definition It is a rare inherited bone marrow failure syndrome associated with abnormalities of the skin, fingernails, and tongue. Other clinical manifestations may include epiphora, lung fibrosis, liver cirrhosis, osteoporosis, and a predisposition to develop a variety of ...
A telomerase component is defective in the human disease dyskeratosis congenita. The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encoding dyskerin. Sufferers have defects in highly ... JR Mitchell,E Wood,K Collins - 《Nature》 被引量: ...
Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy and skin pigmentation. Whilst most cases are X-linked, autosomal dominant and recessive forms have been reported. The significance of the condi...
Dyskeratosis congenita is a rare, usually X-linked disorder typically characterized by leucokeratosis of the mucous membranes, nail dystrophy, reticulate hyperpigmentation and progressive bone marrow aplasia. We report a new case of a male patient with characteristic muco-cutaneous changes and bone marrow...
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucle...