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

Autor: X Jin, W Liu, LH Qv, WQ X, HB Huang

Publikováno v: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021)

Abstract 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 p

Externí odkaz: https://doaj.org/article/70e99b1282c7406e946b45b6ffcce3ab

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

Autor: Jin X; Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China., Liu W; Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, 572000, Sanya, Hainan Province, China., Qv LH; Department of Ophthalmology, the 74th Army Group Hospital, 510318, Guangzhou, China., X WQ; Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China., Huang HB; Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China. 536273642@qq.com.; Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, 572000, Sanya, Hainan Province, China. 536273642@qq.com.; The Second School of Clinical Medicine, Southern Medical University, Guangzhou, 510515, China. 536273642@qq.com.

Publikováno v: BMC ophthalmology [BMC Ophthalmol] 2021 May 20; Vol. 21 (1), pp. 225. Date of Electronic Publication: 2021 May 20.