17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE.
Armour CM, et al. Among authors: dupont br.
Eur J Hum Genet. 2011 Nov;19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1.
Eur J Hum Genet. 2011.
PMID: 21629300
Free PMC article.