Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

von Mowat, D R, Croaker, G D, Cass, D T, Kerr, B A, Chaitow, J, Adès, L C, Chia, N L, Wilson, M J
Veröffentlicht 1998