CREBBP mutations in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation

Research output: Contribution to journal › Meeting abstract › Contributed › peer-review

Contributors

  • Oliver Bartsch - , Hereditary Cancer Syndrome Center (Author)
  • P Meinecke - , Childrens Hospital Altonae (Author)
  • K Locher - , TUD Dresden University of Technology (Author)
  • W Kress - , University of Würzburg (Author)
  • M Pilz - , Hereditary Cancer Syndrome Center (Author)
  • E Seemanova - , Charles University Prague (Author)
  • K Ostermann - , Chair of General Genetics (Author)
  • G Rodel - , Chair of General Genetics (Author)

Details

Original languageEnglish
Article numberP0758
Pages (from-to)234-234
Number of pages1
JournalEuropean journal of human genetics
Volume10
Issue numberSuppl 1
Publication statusPublished - May 2002
Peer-reviewedYes

Conference

TitleEuropean Human Genetics Conference 2002 in Conjuction with European Meeting on Psychosocial Aspects of Genetics 2002
Abbreviated titleESHG/EMPAG 2002
Duration25 - 28 May 2002
Degree of recognitionInternational event
LocationPalais de la Musique et des Congrès
CityStrasbourg
CountryFrance

Keywords