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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Detalles Bibliográficos
Autores principales: Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370232/
https://www.ncbi.nlm.nih.gov/pubmed/28361097
http://dx.doi.org/10.1002/mgg3.250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370232/
https://www.ncbi.nlm.nih.gov/pubmed/28361097
http://dx.doi.org/10.1002/mgg3.250

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