Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient

J Eur Acad Dermatol Venereol. 2018 Sep;32(9):e365-e366. doi: 10.1111/jdv.14939. Epub 2018 Mar 30.

Authors

G Perazzolli¹, G Girolomoni¹, C Colato², D Quaglino³

Affiliations

¹ Section of Dermatology, Department of Medicine, University of Verona, Piazzale A. Stefani 1, 37126, Verona, Italy.
² Section of Pathology, Department of Diagnostics and Public Health, University of Verona, Piazzale L.A. Scuro 10, 37134, Verona, Italy.
³ Department of Life Sciences, University of Modena and Reggio Emilia, Via Campi 287, 41125, Modena, Italy.

PMID: 29524272
DOI: 10.1111/jdv.14939

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Chromosome Segregation*
Female
Hemizygote*
Humans
Multidrug Resistance-Associated Proteins / genetics*
Mutation*
Pseudoxanthoma Elasticum / genetics*

Substances

ABCC6 protein, human
Multidrug Resistance-Associated Proteins