Article ISI
AMERICAN JOURNAL OF HUMAN GENETICS  (2001)

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Amiel Jeanne; Espinosa-Parrilla Yolanda; Steffann Julie; Gosset Philippe; Pelet Anna; Prieur Margerite; Boute Odile; Choiset Agnès; Lacombe Didier; Philip Nicole; Le Merrer Martine; Tanaka Hajime; Till Marianne; Touraine Renaud; Toutain Annick; Vekemans Michel; Munnich Arnold; Lyonnet Stanislas