Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

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 searche...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Horm Res Paediatr
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: 2019
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7173346/
https://ncbi.nlm.nih.gov/pubmed/31865343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000504884
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