Catalina Cabrera-Salcedo Colin P Hawkes Leah Tyzinski Melissa Andrew Guillaume Labilloy Diego Campos Amalia Feld Annalisa Deodati Vivian Hwa Joel N Hirschhorn Adda Grimberg Andrew Dauber the Genomics Research and Innovation Network
10.1159/000504884
Horm Res Paediatr
2019;92(3):186-195.
bioinformatics electronic health records exome sequencing genomics igf1r short stature
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/31865343/
Body Height / genetics Growth Disorders / genetics Insulin-Like Growth Factor I / analysis Phenotype
Body Height / genetics Growth Disorders / genetics Insulin-Like Growth Factor I / analysis Phenotype Case Reports Adolescent Child Child, Preschool Cohort Studies Cross-Sectional Studies DNA-Binding Proteins / genetics Electronic Health Records Exome Sequencing Female HEK293 Cells Humans Male Mutation, Missense Receptor, IGF Type 1 / chemistry Receptor, IGF Type 1 / genetics Receptor, IGF Type 1 / physiology CHD2 protein, human DNA-Binding Proteins IGF1 protein, human IGF1R protein, human Insulin-Like Growth Factor I Receptor, IGF Type 1
PMC7173346
31865343
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
2019