Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
J Douglas, K Tatton-Brown, K Coleman, S Guerrero, J Berg, T R P Cole, D FitzPatrick, Y Gillerot, H E Hughes, D Pilz, F L Raymond, I K Temple, A Irrthum, J P Schouten, N Rahman
Journal of Medical Genetics Sep 2005, 42 (9) e56; DOI: 10.1136/jmg.2005.031930