Article
A novel variant in PAX6 as the cause of aniridia in a Chinese family.
BMC ophthalmology - 20 May 2021
Jin X, Liu W, Qv L H, X W Q, Huang H B
Abstract excerpt
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 aniridia genes was used to identify the causative mutation. RESULTS: A novel heterozygous PAX6 nonsense mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.