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- Title
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
- Authors
Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; Proud, Monica; Stocco, Amber; Rodriguez, Diana L; Kozel, Beth A; Sparagana, Steven; Roeder, Elizabeth R; McGrew, Susan G; Kurczynski, Thaddeus W; Allison, Leslie J; Amato, Stephen; Savage, Sarah; Patel, Ankita; Stankiewicz, Pawel; Beaudet, Arthur L; Cheung, Sau Wai; Lupski, James R
- Abstract
Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 5, p332
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2009.073015