Ontology highlight
ABSTRACT:
SUBMITTER: Pichiecchio A
PROVIDER: S-EPMC6162925 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Pichiecchio Anna A Vitale Giovanni G Caporali Camilla C Parazzini Cecilia C Milani Donatella D Recalcati Maria Paola MP D'Amico Laura L Signorini Sabrina S Balottin Umberto U Bastianello Stefano S
BMC medical genomics 20180929 1
<h4>Background</h4>Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized.<h4>Case presentation</h4>In this report, we describe a case of large mi ...[more]