Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
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J. Sarles | J. Hugot | N. Katsanis | J. Rivière | J. Thevenon | A. Blanchard | N. Lévy | L. Faivre | C. Thauvin-Robinet | C. Brochier-Armanet | Y. Duffourd | O. Goulet | P. L. Tan | F. Huet | M. Komuta | X. Stephenne | B. Roquelaure | S. Sigaudy | Emmanuelle Ecochard-Dugelay | A. Bruel | C. Lacoste | C. Badens | G. Héry | P. Bourgeois | A. Fabre | E. Gonzales | K. Mazodier | Ludmila Francescatto | E. Marinier | A. Delarue | P. Tan | R. Maudinas | Clothilde Estève | A. Bourchany | C. de Leusse | P. Gauchez | C. Guettier-Bouttier | Y. Rimet