Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient

Takaaki Hayashi, Hiroko Maki, Natsuki Higa, Kei Mizobuchi, Takafumi Maruyama, Taiju Hayashi, Hirotomo Saitsu, Kei Shinoda

Open source

DOI: 10.1007/s10633-026-10149-z
Published: 2026-09-16
Container: Documenta Ophthalmologica
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1007/s10633-026-10149-z,
  title = {Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient},
  author = {Takaaki Hayashi and Hiroko Maki and Natsuki Higa and Kei Mizobuchi and Takafumi Maruyama and Taiju Hayashi and Hirotomo Saitsu and Kei Shinoda},
  year = {2026},
  journal = {Documenta Ophthalmologica},
  doi = {10.1007/s10633-026-10149-z},
  url = {https://doi.org/10.1007/s10633-026-10149-z}
}

RIS

TY  - JOUR
TI  - Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient
AU  - Takaaki Hayashi
AU  - Hiroko Maki
AU  - Natsuki Higa
AU  - Kei Mizobuchi
AU  - Takafumi Maruyama
AU  - Taiju Hayashi
AU  - Hirotomo Saitsu
AU  - Kei Shinoda
PY  - 2026
JO  - Documenta Ophthalmologica
DO  - 10.1007/s10633-026-10149-z
UR  - https://doi.org/10.1007/s10633-026-10149-z
ER  -

APA

Hayashi, T., Maki, H., Higa, N., Mizobuchi, K., Maruyama, T., Hayashi, T., Saitsu, H., & Shinoda, K. (2026). Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient. Documenta Ophthalmologica. https://doi.org/10.1007/s10633-026-10149-z

Source records

crossref · retrieved 2026-09-25T14:58:54.792Z