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Cockayne Syndrome

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
推出的年份: 1991(1981)
副标题
树号: C05.116.099.343.250, C10.574.500.362, C16.131.077.250, C16.320.240.562, C16.320.400.200, C18.452.284.250
MeSH 单一 ID: D003057
进入的组:
  • Syndrome, Cockayne
  • Progeria-Like Syndrome
  • Progeria Like Syndrome
  • Progeria-Like Syndromes
  • Syndrome, Progeria-Like
  • Progeroid Nanism
  • Dwarfism-Retinal Atrophy-Deafness Syndrome
  • Cockayne Syndrome, Type II
  • Type II Cockayne Syndrome
  • Group B Cockayne Syndrome
  • Type B Cockayne Syndrome
  • Cockayne Syndrome, Group B
  • Cockayne Syndrome, Type B
  • Cockayne Syndrome, Type III
  • Cockayne Syndrome Type C
  • Type III Cockayne Syndrome
  • Cockayne Syndrome, Type C
  • Group C Cockayne Syndrome
  • Type C Cockayne Syndrome
  • Cockayne Syndrome Type 3
  • Cockayne Syndrome, Group C
  • Cockayne Syndrome, Type I
  • Type I Cockayne Syndrome
  • Group A Cockayne Syndrome
  • Type A Cockayne Syndrome
  • Cockayne Syndrome, Group A
  • Cockayne Syndrome, Type A
早前的内容:
  • Dwarfism (1966-1980)
  • Photosensitivity Disorders (1966-1980)

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