Open AccessCharacterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
Author(s) -
Pozzi Sara,
Tan WenHann,
MartinezBarbera JuanPedro
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.868
Subject(s) - medicine , dysplasia , pathology
Key Clinical Message 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 HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.