Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Vianna-Morgante AM, Krepischi AC, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR.
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Am J Hum Genet. 2014 Nov 6;95(5):565-78. doi: 10.1016/j.ajhg.2014.10.006. Epub 2014 Nov 6.
Am J Hum Genet. 2014.
PMID: 25439725
Free PMC article.