Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype

J Dermatol. 2019 Mar;46(3):e81-e82. doi: 10.1111/1346-8138.14596. Epub 2018 Aug 17.

Authors

Tokimasa Hida¹, Masae Okura¹, Keiju Kobayashi¹, Toshiharu Yamashita¹, Chikako Nishigori², Hisashi Uhara¹

Affiliations

¹ Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
² Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.

PMID: 30117619
DOI: 10.1111/1346-8138.14596

No abstract available

Publication types

Case Reports
Letter

MeSH terms

DNA Mutational Analysis
Dermoscopy
Female
Humans
Middle Aged
Phenotype*
Polymorphism, Single Nucleotide
Sequence Deletion
Skin / diagnostic imaging
Xeroderma Pigmentosum / diagnosis
Xeroderma Pigmentosum / genetics*
Xeroderma Pigmentosum Group D Protein / genetics*

Substances

Xeroderma Pigmentosum Group D Protein
ERCC2 protein, human

Supplementary concepts

Xeroderma Pigmentosum, Complementation Group D