Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy

Liang Wang, Manhong Li, Guorui Dou, Jiaxing Sun, Ziyi Zhou, Yusheng Wang, Zifeng Zhang

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DOI
10.1186/s12886-026-04675-2
Published
2026-02-18
Container
BMC Ophthalmology
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1186/s12886-026-04675-2,
  title = {Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy},
  author = {Liang Wang and Manhong Li and Guorui Dou and Jiaxing Sun and Ziyi Zhou and Yusheng Wang and Zifeng Zhang},
  year = {2026},
  journal = {BMC Ophthalmology},
  doi = {10.1186/s12886-026-04675-2},
  url = {https://doi.org/10.1186/s12886-026-04675-2}
}

RIS

TY  - JOUR
TI  - Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy
AU  - Liang Wang
AU  - Manhong Li
AU  - Guorui Dou
AU  - Jiaxing Sun
AU  - Ziyi Zhou
AU  - Yusheng Wang
AU  - Zifeng Zhang
PY  - 2026
JO  - BMC Ophthalmology
DO  - 10.1186/s12886-026-04675-2
UR  - https://doi.org/10.1186/s12886-026-04675-2
ER  - 

APA

Wang, L., Li, M., Dou, G., Sun, J., Zhou, Z., Wang, Y., & Zhang, Z. (2026). Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. BMC Ophthalmology. https://doi.org/10.1186/s12886-026-04675-2

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