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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: delarue a. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
Sonographic diagnosis of a common pancreaticobiliary channel in children.
Chapuy S, Gorincour G, Roquelaure B, Aschero A, Paris M, Lambot K, Delarue A, Bourlière-Najean B, Petit P. Chapuy S, et al. Among authors: delarue a. Pediatr Radiol. 2006 Dec;36(12):1300-5. doi: 10.1007/s00247-006-0322-z. Epub 2006 Oct 7. Pediatr Radiol. 2006. PMID: 17028852
109 results