Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005;102:15960-15964.Armanios M, Chen JL, Chang YP, Brodsky RA,
A mosaic arrangement of skin lesions has been been noted in numerous autosomal dominant traits including hereditary multiple skin tumors, disorders of keratinization, diseases of the connective tissue or bones, and vascular disorders. Hereditary multiple
A telomerase component is defective in the human disease dyskeratosis congenita. Nature, 402 (1999), pp. 551-555 View in ScopusGoogle Scholar 26 T Vulliamy, A Marrone, F Goldman, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature, 413 (2001...
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which patients undergo premature ageing and have a predisposition to malignancy. X-linked and autosomal (dominant and recessive) forms of the disease are recognized. The gene responsible for X-linked DC () en...
Dyskeratosis congenita (DC) is a severe inherited premature aging syndrome characterised by muco-cutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. X-linked recessive, autosomal dominant (AD) and autosomal recessive (AR) forms of the disease are recognised. Mutations...
Moreover, cases suggesting superimposed mosaicism have been documented, without molecular data, in autosomal dominant acanthosis nigricans, autosomal dominant dyskeratosis congenita, and porokeratosis palmaris, plantaris et disseminata. In disorders of connective tissue or bones, both types of mosaicism ...
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy. X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to ...