Matejas, Verena <br/><br/>
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.  [electronic resource] 

 -  American journal of medical genetics. Part A  Oct 2011 
 - 2601-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.34214  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Base Sequence<br/>Biopsy<br/>Chromosomes, Human, Pair 3--genetics<br/>Eye Abnormalities--genetics<br/>Fatal Outcome<br/>Germany<br/>Haplotypes--genetics<br/>Humans<br/>Kidney--pathology<br/>Laminin--genetics<br/>Male<br/>Molecular Sequence Data<br/>Myasthenic Syndromes, Congenital<br/>Nephrotic Syndrome<br/>Phenotype<br/>Pupil Disorders--genetics<br/>Sequence Analysis, DNA<br/>Uniparental Disomy--genetics