Ontology highlight
ABSTRACT:
SUBMITTER: Barcena C
PROVIDER: S-EPMC4022398 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Bárcena Clea C Quesada Víctor V De Sandre-Giovannoli Annachiara A Puente Diana A DA Fernández-Toral Joaquín J Sigaudy Sabine S Baban Anwar A Lévy Nicolas N Velasco Gloria G López-Otín Carlos C
BMC medical genetics 20140502
<h4>Background</h4>SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance.<h4>Case presentation</h4>In this study, we used whole-exome sequencing approaches in two patients with clinical features o ...[more]