Lin, Dar-Shong <br/><br/>
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Dec 2011 
 - 3095-9 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.34326  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Corneal Opacity--diagnosis<br/>Cutis Laxa--diagnosis<br/>Exons<br/>Gene Expression<br/>Heterozygote<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Mutation<br/>Phenotype<br/>Pyrroline Carboxylate Reductases--genetics<br/>delta-1-Pyrroline-5-Carboxylate Reductase