Y. Kumagai, N. Umegaki-Arao, T. Sasaki, Y. Nakamura, H. Takahashi, A. Ashida, Y. Tsunemi, M. Kawashima, A. Shimizu, A. Ishiko, et al. Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY. 2017. 31. 5. e241-e243
A familial case of nail patella syndrome with a heterozygous indel mutation of LMX1B detected by sequencing and luciferase reporter assay
(42nd Annual Meeting of the Japanese Society for Investigative Dermatology 2017)