Associated Papers
Jordans' anomaly in Chanarin-Dorfman syndrome.
Sánchez-Cortés J et al.
Advances in Laboratory Medicine, 2025
Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.
Mangukiya NP et al.
Cureus, 2023
Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).
Quelhas da Costa R et al.
Ge Portuguese Journal of Gastroenterology, 2022
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.
Liang B et al.
Frontiers in Genetics, 2022
35419035 (PubMed )
Supplement: Table1.xlsx › Sheet1
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
Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
Jiang X et al.
International Journal of Dermatology, 2021
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
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
Takeichi T et al.
Journal of Dermatological Science, 2016
From blood smear to lipid disorder: a case report.
Elitzur S et al.
Journal of Pediatric Hematology/oncology, 2013
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Schweiger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
Pujol RM et al.
The British Journal of Dermatology, 2005
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