Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations inUNC45A
Clothilde Esteve,Ludmila Francescatto,Perciliz L. Tan,Aurélie Bourchany,Cécile De Leusse,Evelyne Marinier,Arnaud Blanchard,Patrice Bourgeois,Céline Brochier-Armanet,Ange-Line Bruel,Arnauld Delarue,Yannis Duffourd,Emmanuelle Ecochard-Dugelay,Géraldine Hery,Frédéric Huet,Philippe Gauchez,Emmanuel Gonzales, Catherine Guettier-Bouttier,Mina Komuta,Caroline Lacoste, Raphaelle Maudinas,Karin Mazodier, Yves Rimet,Jean-Baptiste Rivière,Bertrand Roquelaure,Sabine Sigaudy,Xavier Stephenne,Christel Thauvin-Robinet,Julien Thevenon,Jacques Sarles,Nicolas Levy,Catherine Badens,Olivier Goulet,Jean-Pierre Hugot,Nicholas Katsanis,Laurence Faivre,Alexandre Fabre crossref（2017）
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