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Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia

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 t...

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Detalles Bibliográficos
Autores principales: Pozzi, Sara, Tan, Wen‐Hann, Martinez‐Barbera, JuanPedro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378840/
https://www.ncbi.nlm.nih.gov/pubmed/28396770
http://dx.doi.org/10.1002/ccr3.868
Descripción
Sumario: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.