Associated Papers
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.
Missaglia S et al.
Bmc Medical Genetics, 2014
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
Redaelli C et al.
Orphanet Journal of Rare Diseases, 2010
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