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Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

BACKGROUND: Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5370232/
https://ncbi.nlm.nih.gov/pubmed/28361097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.250
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