Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
UNC45A基因功能丧失突变会导致一种综合征,其症状包括胆汁淤积、腹泻、听力障碍和骨骼脆弱。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.01.009
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; Lacoste, Caroline; Maudinas, Raphaelle; Mazodier, Karin; Rimet, Yves; Rivière, Jean-Baptiste; Roquelaure, Bertrand; Sigaudy, Sabine; Stephenne, Xavier; Thauvin-Robinet, Christel; Thevenon, Julien; Sarles, Jacques; Levy, Nicolas; Badens, Catherine; Goulet, Olivier; Hugot, Jean-Pierre; Katsanis, Nicholas; Faivre, Laurence; Fabre, Alexandre