Excess of rare, inherited truncating mutations in autism
نویسندگان
چکیده
منابع مشابه
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 detected in either parent, indicating de novo mutation with parental germinal mosaicism. We hypothe...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2015
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.3303