Article
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
American journal of human genetics - 1 Mar 2018
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
Abstract excerpt
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin...
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