2. Academic Validation
  3. 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

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

  • Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205.
Claus Lenski,  Fatima Abidi,  Alfons Meindl,  Alice Gibson,  Matthias Platzer,  R Frank Kooy,  Herbert A Lubs,  Roger E Stevenson,  Juliane Ramser,  Charles E Schwartz
PMID: 15024694 DOI: 10.1086/383205
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