Müller, Eva <br/><br/>
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.  [electronic resource] 

 -  PloS one  2012 
 - e38220 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0038220  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Antigens--genetics<br/>Bone and Bones--diagnostic imaging<br/>Child<br/>Child, Preschool<br/>Extracellular Signal-Regulated MAP Kinases--metabolism<br/>Female<br/>Heterozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Mitogen-Activated Protein Kinases--metabolism<br/>Mutation<br/>Neuroimaging<br/>Phenotype<br/>Phosphorylation<br/>Proto-Oncogene Proteins c-akt--metabolism<br/>Radiography<br/>Receptor, IGF Type 1--genetics