De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

Background Autism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70–80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not de...

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Veröffentlicht in:Journal of medical genetics 2014-11, Vol.51 (11), p.737-747
Hauptverfasser: Babbs, Christian, Lloyd, Deborah, Pagnamenta, Alistair T, Twigg, Stephen R F, Green, Joanne, McGowan, Simon J, Mirza, Ghazala, Naples, Rebecca, Sharma, Vikram P, Volpi, Emanuela V, Buckle, Veronica J, Wall, Steven A, Knight, Samantha J L, Parr, Jeremy R, Wilkie, Andrew O M
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Sprache:eng
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