title: Characterization of a novelHESX1mutation in a pediatric case of septo-optic dysplasia.
abstract: 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 novelHESX1c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.
authors.affiliation: Developmental Biology and Cancer Research Programme Birth Defects Research Centre UCL Great Ormond Street Institute of Child Health London UK.
authors.forename: Sara
authors.identifier: 0000-0002-9121-0876
authors.initials: S
authors.lastname: Pozzi
authors.affiliation: Division of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA.
authors.forename: Wen-Hann
authors.initials: WH
authors.lastname: Tan
authors.affiliation: Developmental Biology and Cancer Research Programme Birth Defects Research Centre UCL Great Ormond Street Institute of Child Health London UK.
authors.forename: JuanPedro
authors.initials: J
authors.lastname: Martinez-Barbera
keywords: HESX1; hypopituitarism; septo‐optic dysplasia