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

Hayashi T, Maki H, Higa N, Mizobuchi K, Maruyama T, Hayashi T, Saitsu H, Shinoda K

Open source

DOI
10.1007/s10633-026-10149-z
Published
2026 Sep 16
Container
Documenta ophthalmologica. Advances in ophthalmology
Publisher
Not recorded
Open access
unknown

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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 = {Hayashi T and Maki H and Higa N and Mizobuchi K and Maruyama T and Hayashi T and Saitsu H and Shinoda K},
  year = {2026},
  journal = {Documenta ophthalmologica. Advances in ophthalmology},
  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  - Hayashi T
AU  - Maki H
AU  - Higa N
AU  - Mizobuchi K
AU  - Maruyama T
AU  - Hayashi T
AU  - Saitsu H
AU  - Shinoda K
PY  - 2026
JO  - Documenta ophthalmologica. Advances in ophthalmology
DO  - 10.1007/s10633-026-10149-z
UR  - https://doi.org/10.1007/s10633-026-10149-z
ER  - 

APA

T, H., H, M., N, H., K, M., T, M., T, H., H, S., & K, S. (2026). Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.. Documenta ophthalmologica. Advances in ophthalmology. https://doi.org/10.1007/s10633-026-10149-z

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