Ontology highlight
ABSTRACT:
SUBMITTER: Guo MH
PROVIDER: S-EPMC4130218 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Guo Michael H MH Shen Yiping Y Walvoord Emily C EC Miller Timothy C TC Moon Jennifer E JE Hirschhorn Joel N JN Dauber Andrew A
Hormone research in paediatrics 20140620 1
<h4>Background/aims</h4>Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature.<h4>Methods</h4>We recruited 14 children with severe short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to i ...[more]