Malandrini, A <br/><br/>
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.  [electronic resource] 

 -  Clinical genetics  Aug 2001 
 - 151-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0009-9163 
<br/><br/><label>Standard No.: </label>10.1034/j.1399-0004.2001.600210.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Aniridia--pathology<br/>Blepharoptosis--pathology<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Eye Proteins<br/>Family Health<br/>Female<br/>Homeodomain Proteins--genetics<br/>Humans<br/>Intellectual Disability--pathology<br/>Male<br/>Middle Aged<br/>Mutation<br/>Mutation, Missense<br/>PAX6 Transcription Factor<br/>Paired Box Transcription Factors<br/>Pedigree<br/>Polymorphism, Single-Stranded Conformational<br/>Repressor Proteins