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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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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5378840/ https://ncbi.nlm.nih.gov/pubmed/28396770 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.868 |
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