Umegaki-Arao N, Ono N, Tanaka R, Sasaki T, Fujita H, Shiohama A, Aoki S, Amagai M, Kubo A. A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor. British Journal of Dermatology. 2019. 182. 5. 1303-1305
Identification and molecular characterization of a CDC20 mutation in a novel mosaic variegated aneuploidy syndrome with premature aging phenotypes.
(International Investigative Dermatology 2018 2018)
LMX1B with an inframe indel mutation in a familial case of nail patella syndrome shows loss of its transcriptional activity.
(日本研究皮膚科学会 第42回年次学術大会・総会 2017)
GJA1モザイク変異を同定したInflammatory linear verrucous epidermal nevusの世界第1例
(第116回日本皮膚科学会総会 2017)
Genetic characterizaion of a patient with a progeroid phenotype and mosaic variegated aneuploidy.
(Keystone Symposia/Aging and Mechanisms of Aging-Related Disease 2017)
