Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5

Chiara Redaelli, Rosalind A. Coleman, Laura Moro, Catherine Dacou Voutetakis, Sm Elsayed, Daniele Prati, Alessandro Colli, Donatella Mela, Roberto Colombo, Daniela Tavian

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Biochemistry, Genetics and Molecular Biology