Onoufriadis, Alexandros <br/><br/>
Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).  [electronic resource] 

 -  JAMA dermatology  02 2019 
 - 257-259 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2168-6084 
<br/><br/><label>Standard No.: </label>10.1001/jamadermatol.2018.4665  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Consanguinity<br/>Cutis Laxa--congenital<br/>Follow-Up Studies<br/>Genes, Recessive<br/>Genetic Counseling<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Nephrotic Syndrome--diagnosis<br/>Pedigree<br/>Pyrroline Carboxylate Reductases--genetics<br/>delta-1-Pyrroline-5-Carboxylate Reductase