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Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
Authors:Lenski Claus  Abidi Fatima  Meindl Alfons  Gibson Alice  Platzer Matthias  Frank Kooy R  Lubs Herbert A  Stevenson Roger E  Ramser Juliane  Schwartz Charles E
Institution:1 Department of Medical Genetics at the Ludwig-Maximilians-University, Munich
2 J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC
3 Royal University Hospital, Saskatoon, Canada
4 Institute for Molecular Biotechnology, Jena, Germany
5 Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
6 Mailman Center for Child Development, University of Miami School of Medicine, Miami, FL
Abstract:
Keywords:
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