Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations.
Yamamoto M et al.
The Journal of Dermatology, 2021
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.
Polubothu S et al.
The British Journal of Dermatology, 2018
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
Youssefian L et al.
European Journal of Human Genetics : Ejhg, 2017
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L et al.
Journal of Inherited Metabolic Disease, 2015
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl KM et al.
The Journal of Investigative Dermatology, 2013
Select a paper to view details