Associated Papers
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.
Kopp J et al.
Genes, 2021
34440338 (PubMed )
Supplement: genes-12-01164-s001.zip › genes-1303691-supplementary.pdf
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2021
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Uitto J et al.
Acta Dermato-venereologica, 2020
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
Youssefian L et al.
Journal of Hepatology, 2019
A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene
Nakhaei S et al.
Iranian Biomedical Journal, 2018
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