Auricchio, A, Griseri, P, Carpentieri, ML, Betsos, N, Staiano, A, Tozzi, A, Priolo, M, Thompson, H, Bocciardi, R, Romeo, G, Ballabio, A, Ceccherini, I, "Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.", American Journal of Human Genetics, 1999