Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Clayton Smith, J; Walters, S; Hobson, E; Burkitt Wright, E; Smith, R; Toutain, A; Amiel, J; Lyonnet, S; Mansour, S; Fitzpatrick, D; Ciccone, Roberto; Ricca, Ivana; Zuffardi, Orsetta; Donnai, D.