Whyte, Michael P <br/><br/>
Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.  [electronic resource] 

 -  Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research  Apr 2015 
 - 606-14 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1523-4681 
<br/><br/><label>Standard No.: </label>10.1002/jbmr.2398  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnostic imaging<br/>Amino Acid Sequence<br/>Amino Acids--urine<br/>Animals<br/>Bone Diseases, Developmental--diagnostic imaging<br/>Bone and Bones--metabolism<br/>Female<br/>Homeostasis<br/>Humans<br/>Infant<br/>Intellectual Disability--diagnostic imaging<br/>Molecular Sequence Data<br/>Mutation<br/>Nitrogenous Group Transferases--chemistry<br/>Phosphoserine--urine<br/>Radiography<br/>Sequence Homology, Amino Acid