- Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. Wadey, R., McKie, J., Papapetrou, C., Sutherland, H., Lohman, F., Osinga, J., Frohn, I., Hofstra, R., Meijers, C., Amati, F., Conti, E., Pizzuti, A., Dallapiccola, B., Novelli, G., Scambler, P. Am. J. Hum. Genet. (1999)