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- W4211014452 abstract "Cockayne syndrome (CS) is a rare autosomal recessive disorder characterised by pre- or post-natal growth failure, leading to a characteristic appearance of so-called cachectic dwarfism, progressive neurologic dysfunction, signs of premature ageing, gait defects, ocular and skeletal abnormalities and otherwise clinically heterogeneous features that commonly include cutaneous photosensitivity but no cancer. In 1992, Nance and Berry have suggested a classification of the disease into three clinically different subtypes: - “classical CS” or type I (CSI), in which classical CS symptoms become manifest within the first few years of life, - “severe CS” or type II (CSII), with more severe symptoms already manifest prenatally, and a mild form, characterised by late onset and slow progression of symptoms (Nance and Berry 1992)." @default.
- W4211014452 created "2022-02-13" @default.
- W4211014452 creator A5053127058 @default.
- W4211014452 creator A5063514160 @default.
- W4211014452 date "2008-01-01" @default.
- W4211014452 modified "2023-09-26" @default.
- W4211014452 title "Cockayne Syndrome" @default.
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