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

Claus Lenski ,  Fatima Abidi ,  Alfons Meindl ,  Alice Gibson ,  Matthias Platzer ,  R Frank Kooy ,  Herbert A Lubs ,  Roger E Stevenson ,  Juliane Ramser ,  Charles E Schwartz