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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