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 d...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Cognitive and Behavioural Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269/
https://www.ncbi.nlm.nih.gov/pubmed/25228304
http://dx.doi.org/10.1136/jmedgenet-2014-102582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269/
https://www.ncbi.nlm.nih.gov/pubmed/25228304
http://dx.doi.org/10.1136/jmedgenet-2014-102582

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