Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction
Article in American Journal of Medical Genetics Part A (November 2023)
The most recent citing publications are shown below. View all 13 publications that cite this research output on Dimensions.
Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder
Article in Cureus (August 2023)
Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
Article in Veterinary Sciences (August 2022)