Moosa, Shahida <br/><br/>
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival.  [electronic resource] 

 -  American journal of medical genetics. Part A  09 2016 
 - 2436-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37823  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnostic imaging<br/>Child, Preschool<br/>Founder Effect<br/>Growth Disorders--diagnostic imaging<br/>Hernia--diagnostic imaging<br/>Homozygote<br/>Humans<br/>Infant<br/>Joint Instability--diagnostic imaging<br/>Male<br/>Mitochondrial Precursor Protein Import Complex Proteins<br/>Mitochondrial Proteins--genetics<br/>Mutation<br/>Phenotype<br/>Psychomotor Disorders--diagnostic imaging<br/>Survival Analysis