OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Test...
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
About this item
Full title
Author / Creator
Publisher
Washington, DC: Endocrine Society
Journal title
Language
English
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Publication information
Publisher
Washington, DC: Endocrine Society
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Scope and Contents
Contents
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 electronic health record (EHR) improves our abil...
Alternative Titles
Full title
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
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6554798
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6554798
Other Identifiers
ISSN
2472-1972
E-ISSN
2472-1972
DOI
10.1210/js.2019-OR07-6
