Schimmenti, L A <br/><br/>
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.  [electronic resource] 

 -  Human mutation  1999 
 - 369-76 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adult<br/>Amino Acid Sequence<br/>Animals<br/>Arnold-Chiari Malformation--genetics<br/>Base Sequence<br/>Child, Preschool<br/>Coloboma--genetics<br/>DNA Primers--genetics<br/>DNA-Binding Proteins--genetics<br/>Female<br/>Genes, Dominant<br/>Humans<br/>Kidney--abnormalities<br/>Male<br/>Mice<br/>Mutation<br/>Mutation, Missense<br/>PAX2 Transcription Factor<br/>Pedigree<br/>Phenotype<br/>Syndrome<br/>Transcription Factors--genetics