Article
Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.
European journal of human genetics : EJHG - 1 Jun 2023
Asahina Yasuhiko, Tahara Umi, Aoki Satomi, Nakabayashi Kazuhiko, Tateishi Chiharu, Hayashi Daisuke, Amagai Masayuki, Tsuruta Daisuke, Kubo Akiharu
Abstract excerpt
A prenatal second-hit genetic change that occurs on the wild-type allele in an embryo with a congenital pathogenic variant allele results in mosaicism of monoallelic and biallelic defect of the gene, which is called superimposed mosaicism. Superimposed mosaicism of Hailey-Hailey disease (HHD) has been demonstrated in one familial case. Here, we report two unrelated HHD cases with superimposed mosaicism: a...
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