De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However, the knowledge about the associated clinical picture remains fragmentary. In this study, two individuals with de novo TCF20 sequence variants w...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Schäfgen, Johanna, Cremer, Kirsten, Becker, Jessica, Wieland, Thomas, Zink, Alexander M, Kim, Sarah, Windheuser, Isabelle C, Kreiß, Martina, Aretz, Stefan, Strom, Tim M, Wieczorek, Dagmar, Engels, Hartmut
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117939/
https://ncbi.nlm.nih.gov/pubmed/27436265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.90
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