Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes
17p13.1区域片段的剂量变化会导致智力障碍和小头畸形,这是由多个基因复杂的遗传相互作用引起的。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.10.006.
Claudia M B Carvalho ,Shivakumar Vasanth ,Marwan Shinawi ,Chad Russell ,Melissa B Ramocki ,Chester W Brown ,Jesper Graakjaer ,Anne-Bine Skytte ,Angela M Vianna-Morgante ,Ana C V Krepischi ,Gayle S Patel ,LaDonna Immken ,Kyrieckos Aleck ,Cynthia Lim ,Sau Wai Cheung ,Carla Rosenberg ,Nicholas Katsanis ,James R Lupski