A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

BACKGROUND: To identify the disease-causing gene in a Chinese family affected with congenital aniridia. METHODS: Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography, and fundus fluorescein angiography. The proba...

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Detalles Bibliográficos
Autores principales: Li, Yinwen, Chen, Jieqiong, Zheng, Ying, Chen, Zhixuan, Wang, Tao, Sun, Qian, Wan, Xiaoling, Liu, Haiyun, Sun, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523764/
https://www.ncbi.nlm.nih.gov/pubmed/37752489
http://dx.doi.org/10.1186/s12886-023-03147-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523764/
https://www.ncbi.nlm.nih.gov/pubmed/37752489
http://dx.doi.org/10.1186/s12886-023-03147-1

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