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.

@article{Lenski2004NovelTM,
  title={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.},
  author={Claus Lenski and Fatima E Abidi and Alfons Meindl and Alice A. Gibson and Matthias Platzer and R Frank Kooy and Herbert A. Lubs and Roger E Stevenson and Juliane Ramser and Charles E. Schwartz},
  journal={American journal of human genetics},
  year={2004},
  volume={74 4},
  pages={777-80}
}

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