Associated Papers
Expanding the spectrum of Darier disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Stefani C et al.
Gene, 2026
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
40565511 (PubMed )
Supplement: genes-16-00619-s001.zip › genes-3647767-supplementary.xlsx › Foglio1
A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.
Guo X et al.
Genes & Genomics, 2025
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
Nellen RG et al.
Human Mutation, 2017
New mutations of Darier disease in Tunisian patients.
Bchetnia M et al.
Archives of Dermatological Research, 2009
Clinical and mutational heterogeneity of Darier disease in Tunisian families.
Bchetnia M et al.
Archives of Dermatology, 2009
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Ringpfeil F et al.
Experimental Dermatology, 2001
ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.
Ruiz-Perez VL et al.
Human Molecular Genetics, 1999
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