Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

Daniela Tavian, Eugenia R. Valadares, Laura Moro, Eleonora Druve T. Faguntes, Raquel Quintão Roque, Bruno Giardina, Sara Missaglia

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Biochemistry, Genetics and Molecular Biology