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Research Article
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
  1. J M McGaughran,
  2. L Gaunt,
  3. J Dore,
  4. F Petrij,
  5. H G Dauwerse,
  6. D Donnai
  1. Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.

    Abstract

    We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.

    https://doi.org/10.1136/jmg.33.1.82

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