Ontology highlight
ABSTRACT:
SUBMITTER: Pozzi S
PROVIDER: S-EPMC5378840 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Clinical case reports 20170302 4
Septo-optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We describe herein a novel <i>HESX1</i> c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease. ...[more]