A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome

Subramanian Premkumar, Sathesh Baskaran, Naveena Muralikrishnan, Shiva S Sundar, Sundaresan Periasamy, George V Puthuran

Open source

DOI
10.4103/ijo.ijo_1301_25
Published
2026-01-24
Container
Indian Journal of Ophthalmology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Open access
unknown

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BibTeX

@article{allodium:10.4103/ijo.ijo_1301_25,
  title = {A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome},
  author = {Subramanian Premkumar and Sathesh Baskaran and Naveena Muralikrishnan and Shiva S Sundar and Sundaresan Periasamy and George V Puthuran},
  year = {2026},
  journal = {Indian Journal of Ophthalmology},
  doi = {10.4103/ijo.ijo_1301_25},
  url = {https://doi.org/10.4103/ijo.ijo_1301_25}
}

RIS

TY  - JOUR
TI  - A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome
AU  - Subramanian Premkumar
AU  - Sathesh Baskaran
AU  - Naveena Muralikrishnan
AU  - Shiva S Sundar
AU  - Sundaresan Periasamy
AU  - George V Puthuran
PY  - 2026
JO  - Indian Journal of Ophthalmology
DO  - 10.4103/ijo.ijo_1301_25
UR  - https://doi.org/10.4103/ijo.ijo_1301_25
ER  - 

APA

Premkumar, S., Baskaran, S., Muralikrishnan, N., Sundar, S. S., Periasamy, S., & Puthuran, G. V. (2026). A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. Indian Journal of Ophthalmology. https://doi.org/10.4103/ijo.ijo_1301_25

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