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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Cabrera Salcedo, Catalina, Labilloy, Guillaume, Andrew, Shayne, Hwa, Vivian, Tyzinski, Leah, Grimberg, Adda, Hawkes, Colin, Hirschhorn, Joel, Dauber, Andrew
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Pediatric Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554798/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR07-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados