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- Article de périodique
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric, Svjetlana Goncalves, Sara Gee, Heon Yung Oskouian, Babak Srinivas, Honnappa Choi, Won-Il Shril, Shirlee Ashraf, Shazia Tan, Weizhen Rao, Jia Airik, Merlin Schapiro, David Braun, Daniela A Sadowski, Carolin E Widmeier, Eugen Jobst-Schwan, Tilman Schmidt, Johanna Magdalena Girik, Vladimir Capitani, Guido Suh, Jung H Lachaussée, Noëlle Arrondel, Christelle Patat, Julie Gribouval, Olivier Furlano, Monica Boyer, Olivia Schmitt, Alain Vuiblet, Vincent Hashmi, Seema Wilcken, Rainer Bernier, Francois P Innes, A Micheil Parboosingh, Jillian S Lamont, Ryan E Midgley, Julian P Wright, Nicola Majewski, Jacek Zenker, Martin Schaefer, Franz Kuss, Navina Greil, Johann Giese, Thomas Schwarz, Klaus Catheline, Vilain Schanze, Denny Franke, Ingolf Sznajer, Yves[UCL] Truant, Anne-Sophie[UCL] Adams, Brigitte Désir, Julie Biemann, Ronald Pei, York Ars, Elisabet Lloberas, Nuria Madrid, Alvaro Dharnidharka, Vikas R Connolly, Anne M Willing, Marcia C Cooper, Megan A Lifton, Richard P Simons, Matias Riezman, Howard Antignac, Corinne Saba, Julie D Hildebrandt, Friedhelm (2017) Journal of Clinical Investigation — Vol. 127, no.3, p. 912-928 (2017)