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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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書目詳細資料
發表在:Mol Genet Genomic Med
Main Authors: Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2017
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在線閱讀: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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