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- [7] Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene Orphanet Journal of Rare Diseases, 5
- [9] Erratum To:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene Orphanet Journal of Rare Diseases, 6