[Sister chromatid exchange in some genetic dermatoses]. 1988

G Linss

UI MeSH Term Description Entries
D001816 Bloom Syndrome An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. Bloom-Torre-Machacek Syndrome,Bloom's Syndrome,Congenital Telangiectatic Erythema,Bloom Torre Machacek Syndrome,Bloom's Syndromes,Congenital Telangiectatic Erythemas,Erythema, Congenital Telangiectatic,Telangiectatic Erythema, Congenital
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001478 Basal Cell Nevus Syndrome Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant. Gorlin Syndrome,Nevoid Basal Cell Carcinoma Syndrome,Nevus Syndrome, Basal Cell,Fifth Phacomatosis,Gorlin-Goltz Syndrome,Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies,NBCCS,Fifth Phacomatoses,Gorlin Goltz Syndrome,Syndrome, Gorlin,Syndrome, Gorlin-Goltz
D012854 Sister Chromatid Exchange An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME. Chromatid Exchange, Sister,Chromatid Exchanges, Sister,Exchange, Sister Chromatid,Exchanges, Sister Chromatid,Sister Chromatid Exchanges
D012871 Skin Diseases Diseases involving the DERMIS or EPIDERMIS. Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease
D014983 Xeroderma Pigmentosum A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA. Kaposi Disease,Kaposi's Disease,Kaposis Disease

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