Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1.
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Shotaro
S
Suzuki
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. Electronic address: nomura@huhp.hokudai.ac.jp.
Toshifumi
T
Nomura
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Toshinari
T
Miyauchi
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Masae
M
Takeda
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Hideki
H
Nakamura
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Satoru
S
Shinkuma
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Yasuyuki
Y
Fujita
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Masashi
M
Akiyama
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Hiroshi
H
Shimizu
D000328:Adult; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D053556:Keratin-1 / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009030:Mosaicism
C491616:KRT1 protein, human; D053556:Keratin-1