A novel variant in PAX6 as the cause of aniridia in a Chinese family

BACKGROUND: Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. METHODS: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniri...

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Detalles Bibliográficos
Autores principales: Jin, X, Liu, W, Qv, LH, X, WQ, Huang, HB
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136215/
https://www.ncbi.nlm.nih.gov/pubmed/34016071
http://dx.doi.org/10.1186/s12886-021-01848-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136215/
https://www.ncbi.nlm.nih.gov/pubmed/34016071
http://dx.doi.org/10.1186/s12886-021-01848-z

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