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Last Updated: 03/06/2025
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Found 182 publications
Adult-onset erythrokeratodermia variabilis (EKV) triggered by pregnancy and crash dieting: A rare case report.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: September 16, 2024
Protean Cutaneous Manifestation Caused by ABCA12 variants: Erythrokeratodermia Variabilis-like Ichthyosis and Unique Palmoplantar Keratoderma.
Journal: Clinical and experimental dermatology
Published: August 16, 2024
The genetic and molecular basis of a connexin-linked skin disease.
Journal: The Biochemical journal
Published: July 15, 2024
Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.
Journal: Cerebellum (London, England)
Published: May 13, 2024
A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia.
Journal: The British journal of dermatology
Published: May 11, 2024
Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis.
Journal: The Journal of dermatology
Published: March 27, 2024
Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.
Journal: Pediatric dermatology
Published: February 06, 2024
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
Journal: Genes
Published: January 19, 2024
Novel variants in ABCA12 cause erythrokeratodermia variabilis.
Journal: The British journal of dermatology
Published: August 18, 2023
Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
Journal: International journal of molecular sciences
Published: July 18, 2023
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Journal: Acta neuropathologica communications
Published: May 23, 2023
Last Updated: 03/06/2025