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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

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