RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; Schwab, Tanya L; Williams, Monique; Abraham, Roshini S; Barnett, Sarah; El-Youssef, Mounif; Graham, Rondell P; Gutierrez Sanchez, Luz Helena; Hasadsri, Linda; Hoffmann, Georg F; Hull, Nathan C; Kopajtich, Robert; Kovacs-Nagy, Reka; Li, Jia-Qi; Marx-Berger, Daniela; McLin, Valérie; McNiven, Mark A; Mounajjed, Taofic; Prokisch, Holger; Rymen, Daisy; Schulze, Ryan J; Staufner, Christian; Yang, Ye; Clark, Karl J; Lanpher, Brendan C; Klee, Eric W.
Am J Hum Genet; 105(1): 108-121, 2019 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-31204009

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