Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
L. Faivre,Clothilde Esteve, L. Francescatto, P. L. Tan, A. Bourchany, C. Delafoulhouze, E. Marinier,Patrice Bourgeois, C. Brochier-Armanet,A. Bruel, A. Delarue,Y. Duffourd, E. Ecochard-Dugelay,O. Goulet, P. Gauchez,E. Gonzales, C. Guettier-Bouttier,F. Huet, M. Komutora, G. Hery,Caroline Lacoste, R. Maudinas, K. Mazodier, Y. Rimet,J. Riviere, B. Roquelaure, J. Sarles,Sabine Sigaudy, E. Savajols,X. Stephenne, C. Thauvin-Robinet,J. Thevenon,Nicolas Levy, Catherine Badens,J. Hugot, N. Katsanis,Alexandre Fabre EUROPEAN JOURNAL OF HUMAN GENETICS（2019）
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