Encyclopedia > Rothmund-Thompson's syndrome

  Article Content

Rothmund-Thompson's syndrome

Rothmund-Thompson's syndrome is a hereditary and familial disease characterized by short stature, cataracts, pigmentation of skin, baldness, abnormalities of bones, nails and teeth. The syndrome was first defined by the German ophthalmologist August Rothmund[?] in 1868. It has recently been considered to be caused by a mutation in the gene RecQ helicase, which is involved in DNA replication and cell reproduction. Currently, there is no treatment for the disease.



All Wikipedia text is available under the terms of the GNU Free Documentation License

 
  Search Encyclopedia

Search over one million articles, find something about almost anything!
 
 
  
  Featured Article
BBC News 24

... ordinary channels BBC1 and BBC2, using terrestrial signals, and this is seen by some as influential (to a certain limited extent) in promoting the take-up of digita ...

 
 
 
This page was created in 53.6 ms