Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
Author(s) -
Catalina CabreraSalcedo,
Colin P. Hawkes,
Leah Tyzinski,
Melissa Andrew,
Guillaume Labilloy,
Diego Campos,
Amalia Feld,
Annalisa Deodati,
Vivian Hwa,
Joel N. Hirschhorn,
Adda Grimberg,
Andrew Dauber
Publication year - 2019
Publication title -
hormone research in paediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.816
H-Index - 89
eISSN - 1663-2826
pISSN - 1663-2818
DOI - 10.1159/000504884
Subject(s) - short stature , etiology , genomics , idiopathic short stature , medicine , electronic health record , bioinformatics , pediatrics , growth hormone , genetics , biology , genome , health care , gene , hormone , economics , economic growth
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.
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