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The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.Pageof 2