Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein

Eur J Dermatol. 2015 Jan-Feb;25(1):75-6. doi: 10.1684/ejd.2014.2454.

Authors

Naoya Mori¹, Teruhiko Makino¹, Megumi Mizawa¹, Ko Kagoyama¹, Hirokazu Kanegane², Hirotoshi Sakaguchi³, Takayoshi Miyazono⁴, Seiji Kojima⁵, Tadamichi Shimizu¹

Affiliations

¹ Department of Dermatology.
² Department of Pediatrics.
³ Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital.
⁴ Department of Internal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.
⁵ Department of Pediatrics, Nagoya University Graduate School of Medicine.

PMID: 25499969
DOI: 10.1684/ejd.2014.2454

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Cell Cycle Proteins / genetics*
Cell Cycle Proteins / metabolism
DNA / genetics*
DNA Mutational Analysis
Dyskeratosis Congenita / genetics*
Dyskeratosis Congenita / metabolism
Humans
Male
Mutation, Missense*
Nuclear Proteins / genetics*
Nuclear Proteins / metabolism

Substances

Cell Cycle Proteins
DKC1 protein, human
Nuclear Proteins
DNA