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

Jill Clayton-Smith, Sarah Walters, Emma Hobson, Emma Burkitt-Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi, Dian Donnai

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Medicine & Life Sciences