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Encyclopedia > 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.
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