Lenski, Claus <br/><br/>
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.  [electronic resource] 

 -  American journal of human genetics  Apr 2004 
 - 777-80 p.  digital 
<br/><br/> Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/383205  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Amino Acid Sequence<br/>Base Sequence<br/>Carrier Proteins<br/>DNA-Binding Proteins<br/>Female<br/>Genetic Diseases, X-Linked--genetics<br/>Humans<br/>Intellectual Disability--complications<br/>Male<br/>Microcephaly--complications<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Nuclear Proteins--chemistry<br/>Pedigree<br/>Syndrome