Keselman, Ana Claudia <br/><br/>
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.  [electronic resource] 

 -  European journal of endocrinology  Nov 2019 
 - K43-K53 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1479-683X 
<br/><br/><label>Standard No.: </label>10.1530/EJE-19-0563  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Cell Proliferation<br/>Computational Biology<br/>Computer Simulation<br/>Fetal Growth Retardation--genetics<br/>Growth Disorders--genetics<br/>HEK293 Cells<br/>Hearing Loss, Sensorineural--genetics<br/>Homozygote<br/>Humans<br/>Infant<br/>Insulin-Like Growth Factor I--deficiency<br/>Male<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Polymorphism, Single Nucleotide--genetics<br/>Receptor, IGF Type 1<br/>Receptors, Somatomedin--genetics<br/>Tyrosine--genetics