Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:BMC Ophthalmol
Main Authors: Jin, X, Liu, W, Qv, LH, X, WQ, Huang, HB
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8136215/
https://ncbi.nlm.nih.gov/pubmed/34016071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-021-01848-z
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!