Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice.
作者信息
Cobben J M, Engelen M, Polstra A
出版信息
Am J Med Genet A. 2013 Jun;161A(6):1517-9. doi: 10.1002/ajmg.a.35866. Epub 2013 Apr 23.