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A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.

Molecular genetics and genomics : MGG - 1 Sept 2023

Kong Yanbo, Yi Haoan, Li Fan, Duan Xiu, Yang Lipu, Fan Xinyu, Wu Guojiu, Ma Minjun, Zha Xu, He Yongshu

Abstract excerpt

Presenile cataract is a relatively rare type of cataract, but its genetic mechanisms are currently not well understood. The precise identification of these causative genes is crucial for effective genetic counseling for patients and their families. The aim of our study was to identify the causative gene associated with presenile cataract in a Chinese family. In February 2020, a four-generation pedigree of...

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PMID: 37438446
DOI: 10.1007/s00438-023-02052-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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