Japanese case of xeroderma pigmentosum complementation group C with a novel mutation

J Dermatol. 2018 Apr;45(4):e80-e81. doi: 10.1111/1346-8138.14098. Epub 2018 Jan 21.

Authors

Yukari Tamesada¹, Eiji Nakano¹, Mariko Tsujimoto¹, Taro Masaki¹, Kazue Yoshida², Hironori Niizeki², Chikako Nishigori¹

Affiliations

¹ Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
² Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.

PMID: 29356054
DOI: 10.1111/1346-8138.14098

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Codon, Nonsense
DNA-Binding Proteins / genetics*
Early Diagnosis
Hospitals, University
Humans
Infant
Japan
Male
Rare Diseases / diagnosis*
Rare Diseases / genetics*
Sequence Analysis, DNA
Skin Aging
Skin Neoplasms / prevention & control
Xeroderma Pigmentosum / diagnosis*
Xeroderma Pigmentosum / genetics*

Substances

Codon, Nonsense
DNA-Binding Proteins
XPC protein, human

Supplementary concepts

Xeroderma Pigmentosum, Complementation Group C