Open AccessTargeted 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 Cabrera-Salcedo,
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) - etiology , short stature , medicine , pediatrics , exome sequencing , idiopathic short stature , cohort , genomics , referral , exome , bioinformatics , phenotype , genetics , biology , growth hormone , family medicine , genome , gene , hormone
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.