Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation

Chen, DD; Yang, T; Zhu, SQ

Zhu, SQ (corresponding author), Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing Keynote Lab Ophthalmol & Visual Sci, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China.

EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2020; 30 (1): 181

Abstract

Background: One prominent pathological feature of congenital aniridia is hypoplasia of the iris, often accompanied by other eye abnormalities. The obj......

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