Savoirs
Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
Redaelli Chiara, Coleman, Moro Laura, Dacou-Voutetakis Catherine, Elsayed Solaf, Prati Daniele, Colli Agostino, Mela Donatella, Colombo Roberto, Tavian, Tavian Daniela