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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Publicado en:Eur J Hum Genet
Autores principales: 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
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en línea: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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