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Results 1 - 10 of 15 for Cockayne "syndrome," type B
  1. Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain ... can be seen on brain scans.People with Cockayne syndrome have a serious reaction to an antibiotic medication ...
  2. ... gene provides instructions for making a protein called Cockayne syndrome A (CSA), which is involved in repairing damaged ... than 30 ERCC8 gene mutations that can cause Cockayne syndrome. This rare condition includes a variety of features, ...
  3. ... gene provides instructions for making a protein called Cockayne syndrome B (CSB). This protein is involved in repairing ... More than 60 ERCC6 gene mutations that cause Cockayne syndrome have been identified. This rare condition includes a ...
  4. Epidermolysis bullosa (EB) is a group of disorders in which skin blisters form after a minor injury. It is passed down in families.
  5. ... another condition related to defective DNA repair called Cockayne syndrome. When this combination of features occurs in the same individual, it is known as xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. People with XP/CS complex ...
  6. ... another condition related to defective DNA repair called Cockayne syndrome. This combination of features is known as xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex.Researchers are uncertain how variants ...
  7. ... M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 ...
  8. ... repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 May 3; ...
  9. Growth Disorders (National Library of Medicine)  
    Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be ...
  10. ... repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 May 3; ...
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