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Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.
- Source :
-
Acta dermato-venereologica [Acta Derm Venereol] 2017 Mar 10; Vol. 97 (3), pp. 399-401. - Publication Year :
- 2017
- Subjects :
- Adult
Biopsy
DNA Mutational Analysis
Erythrokeratodermia Variabilis diagnosis
Genetic Predisposition to Disease
Humans
Keratoderma, Palmoplantar diagnosis
Male
Pedigree
Phenotype
Skin ultrastructure
Codon, Nonsense
Desmoglein 1 genetics
Erythrokeratodermia Variabilis genetics
Heterozygote
Keratoderma, Palmoplantar genetics
Serpins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1651-2057
- Volume :
- 97
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Acta dermato-venereologica
- Publication Type :
- Academic Journal
- Accession number :
- 27786350
- Full Text :
- https://doi.org/10.2340/00015555-2553