Article
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Hormone research in paediatrics - 1 Jan 2019
Cabrera-Salcedo Catalina, Hawkes Colin P, Tyzinski Leah, Andrew Melissa, Labilloy Guillaume, Campos Diego, Feld Amalia, Deodati Annalisa, Hwa Vivian, Hirschhorn Joel N, Grimberg Adda, Dauber Andrew
Abstract excerpt
INTRODUCTION: Short stature is one of the most common reasons for referral to a pediatric endocrinologist and can result from many etiologies. However, many patients with short stature do not receive a definitive diagnosis. OBJECTIVE: To ascertain whether integrating targeted bioinformatics searches of electronic health records (EHRs) combined with genomic studies could identify patients with previously...
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