Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohor...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Mei, Cristina, Fedorenko, Evelina, Amor, David J., Boys, Amber, Hoeflin, Caitlyn, Carew, Peter, Burgess, Trent, Fisher, Simon E., Morgan, Angela T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945616/
https://ncbi.nlm.nih.gov/pubmed/29445122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0102-x
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