Krawitz, Peter M <br/><br/>
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.  [electronic resource] 

 -  American journal of human genetics  Jul 2012 
 - 146-51 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2012.05.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alkaline Phosphatase--blood<br/>Child<br/>Child, Preschool<br/>Female<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Membrane Proteins--genetics<br/>Models, Molecular<br/>Mutation<br/>Pedigree<br/>Syndrome