Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics.

Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ.

Hum Mutat. 2015 Jan;36(1):26-9. doi: 10.1002/humu.22685. Epub 2014 Dec 2. Erratum in: Hum Mutat. 2015 Feb;36(2):279-80.

http://www.ncbi.nlm.nih.gov/pubmed/25196272