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Article

Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families.

American journal of medical genetics. Part A - 1 Oct 2022

Wang Qiwei, Qin Tingfeng, Tan Haowen, Ding Xiaoyan, Lin Xiaoshan, Li Jing, Lin Zhuolin, Sun Limei, Lin Haotian, Chen Weirong

Abstract excerpt

Pathogenic variants in the v-maf avian musculoaponeurotic fibrosarcoma oncogene homologue (MAF) encoding a transcription factor (from a unique subclass of basic leucine zipper transcription factors) are associated with isolated congenital cataracts (CCs) and Aymé-Gripp syndrome (AYGRPS). We collected detailed disease histories from, and performed comprehensive ophthalmic and systemic examinations in 269 patients...

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PMID: 36097645
DOI: 10.1002/ajmg.a.62947

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