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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Aicardi syndrome (AS) is a well-characterized neurodevelopmental disorder with an unknown etiology. In this study, we performed whole-exome sequencing in 11 female patients with the diagnosis of AS, in order to identify the disease-causing gene. In particular, we focused on detecting variants in the...
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| Publicat a: | Mol Syndromol |
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| Autors principals: | , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5073591/ https://ncbi.nlm.nih.gov/pubmed/27781033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000448367 |
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