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Characterization of a novel HESX1 mutation 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 novel HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.

SUBMITTER: Pozzi S 

PROVIDER: S-EPMC5378840 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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Characterization of a novel <i>HESX1</i> mutation in a pediatric case of septo-optic dysplasia.

Pozzi Sara S   Tan Wen-Hann WH   Martinez-Barbera JuanPedro J  

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]

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