Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the Cholesterol side-chain cleavage enzyme, P450scc

Meng Kian Tee, Michal Abramsohn, Neta Loewenthal, Mark Harris, Sudeep Siwach, Ana Kaplinsky, Barak Markus, Ohad Birk, Val C. Sheffield, Ruti Pavari, Eli Hershkovitz, Walter L. Miller

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Biochemistry, Genetics and Molecular Biology