OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature

Background: Short stature is a common reason for referral to a pediatric endocrinologist. Despite adequate evaluation, a pathological diagnosis is not identified in the vast majority of patients. It is often difficult to determine which of these many patients have an undiagnosed genetic cause. The e...

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Veröffentlicht in:J Endocr Soc
Hauptverfasser: Cabrera Salcedo, Catalina, Labilloy, Guillaume, Andrew, Shayne, Hwa, Vivian, Tyzinski, Leah, Grimberg, Adda, Hawkes, Colin, Hirschhorn, Joel, Dauber, Andrew
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2019
Schlagworte:
Pediatric Endocrinology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554798/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR07-6
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