Associated Papers
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
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome.
Ujihara M et al.
Journal of Dermatological Science, 2010
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