17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L.
Rasmussen M, et al.
Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi: 10.1002/ajmg.a.37848. Epub 2016 Jul 13.
Am J Med Genet A. 2016.
PMID: 27409573
Review.
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). ...We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy, autism, schizo …
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosoma …