A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

BACKGROUND: The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus. METHODS: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, and ante...

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Detalles Bibliográficos
Autores principales: Qian, Tianwei, Chen, Chong, Li, Caihua, Gong, Qiaoyun, Liu, Kun, Wang, Gao, Schrauwen, Isabelle, Xu, Xun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491394/
https://www.ncbi.nlm.nih.gov/pubmed/34610801
http://dx.doi.org/10.1186/s12886-021-02120-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491394/
https://www.ncbi.nlm.nih.gov/pubmed/34610801
http://dx.doi.org/10.1186/s12886-021-02120-0

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