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Novel mutation in OCRL leading to a severe form of Lowe syndrome.
Zhou FQ, Wang QW, Liu ZZ, Zhang XL, Wang DN, Dongye MM, Lin HT, Chen WR. Zhou FQ, et al. Int J Ophthalmol. 2019 Jul 18;12(7):1057-1060. doi: 10.18240/ijo.2019.07.01. eCollection 2019. Int J Ophthalmol. 2019. PMID: 31341792 Free PMC article.
Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.
Wang X, Wang D, Wang Q, Huang W, Dongye M, Zhang X, Lin D, Lin Z, Li J, Hu W, Li X, Lin X, Zhong Q, Chen W, Lin H. Wang X, et al. Among authors: wang d, wang q. Front Med (Lausanne). 2021 Oct 15;8:713284. doi: 10.3389/fmed.2021.713284. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34722561 Free PMC article.
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