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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Autores principales: Pozzi, Sara, Tan, Wen‐Hann, Martinez‐Barbera, JuanPedro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
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
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author Pozzi, Sara
Tan, Wen‐Hann
Martinez‐Barbera, JuanPedro
author_facet Pozzi, Sara
Tan, Wen‐Hann
Martinez‐Barbera, JuanPedro
author_sort Pozzi, Sara
collection PubMed
description 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.
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spelling pubmed-53788402017-04-10 Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia Pozzi, Sara Tan, Wen‐Hann Martinez‐Barbera, JuanPedro Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-03-02 /pmc/articles/PMC5378840/ /pubmed/28396770 http://dx.doi.org/10.1002/ccr3.868 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Pozzi, Sara
Tan, Wen‐Hann
Martinez‐Barbera, JuanPedro
Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
title Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
title_full Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
title_fullStr Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
title_full_unstemmed Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
title_short Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia
title_sort characterization of a novel hesx1 mutation in a pediatric case of septo‐optic dysplasia
topic Case Reports
url 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
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