Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1

J Invest Dermatol. 2016 Oct;136(10):2093-2095. doi: 10.1016/j.jid.2016.05.109. Epub 2016 Jun 7.

Authors

Shotaro Suzuki¹, Toshifumi Nomura², Toshinari Miyauchi¹, Masae Takeda¹, Hideki Nakamura¹, Satoru Shinkuma¹, Yasuyuki Fujita¹, Masashi Akiyama³, Hiroshi Shimizu¹

Affiliations

¹ Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
² Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. Electronic address: nomura@huhp.hokudai.ac.jp.
³ Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

PMID: 27283508
DOI: 10.1016/j.jid.2016.05.109

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Frameshift Mutation*
Humans
Ichthyosis / genetics*
Ichthyosis / pathology
Keratin-1 / genetics*
Loss of Heterozygosity
Male
Middle Aged
Mosaicism*

Substances

KRT1 protein, human
Keratin-1