Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism

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 be...

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Detalles Bibliográficos
Autores principales: Asahina, Yasuhiko, Tahara, Umi, Aoki, Satomi, Nakabayashi, Kazuhiko, Tateishi, Chiharu, Hayashi, Daisuke, Amagai, Masayuki, Tsuruta, Daisuke, Kubo, Akiharu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250405/
https://www.ncbi.nlm.nih.gov/pubmed/36922631
http://dx.doi.org/10.1038/s41431-023-01316-w

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