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Journal article
Loss-of-Function Mutations inUNC45ACause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Esteve, Clothilde
Francescatto, Ludmila
Tan, Perciliz L.
Bourchany, Aurélie
De Leusse, Cécile
Marinier, Evelyne
Blanchard, Arnaud
Bourgeois, Patrice
Brochier-Armanet, Céline
Bruel, Ange-Line
Delarue, Arnauld
Duffourd, Yannis
Ecochard-Dugelay, Emmanuelle
Hery, Géraldine
Huet, Frédéric
Gauchez, Philippe
Gonzales, Emmanuel
Guettier-Bouttier, Catherine
Komuta, Mina
[UCL]
Lacoste, Caroline
Maudinas, Raphaelle
Mazodier, Karin
Rimet, Yves
Rivière, Jean-Baptiste
Roquelaure, Bertrand
Sigaudy, Sabine
Stéphenne, Xavier
[UCL]
Thauvin-Robinet, Christel
Thevenon, Julien
Sarles, Jacques
Levy, Nicolas
Badens, Catherine
Goulet, Olivier
Hugot, Jean-Pierre
Katsanis, Nicholas
Faivre, Laurence
Fabre, Alexandre
(2018)
American Journal of Human Genetics — Vol. 102, no. 3, p. 364-374 (2018)