Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
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Lovric S, et al. Among authors: kuss n.
J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.
J Clin Invest. 2017.
PMID: 28165339
Free PMC article.