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Ophthalmic Genetics Volume 43, 2022 - Issue 2
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Research Reports

A novel variant in TGFBI causes keratoconus in a two-generation Chinese family

Qinghong LinRefractive Surgery Department, Hefei Bright Eye Hospital, Hefei, Anhui Province, ChinaCorrespondence[email protected]
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,
Lin ZhengRefractive Surgery Department, Hefei Bright Eye Hospital, Hefei, Anhui Province, ChinaView further author information
&
Zhengwei ShenRefractive Surgery Department, Hefei Bright Eye Hospital, Hefei, Anhui Province, ChinaView further author information
Pages 159-163 | Received 01 Jul 2021, Accepted 30 Nov 2021, Published online: 13 Dec 2021

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Leire Irusteta, Arturo Ramírez-Miranda, Alejandro Navas-Pérez, Luis Montes-Almanza, José Arteaga, Froylán García-Martínez, Enrique Graue-Hernández & Juan C. Zenteno. (2022) Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant. Ophthalmic Genetics 43:5, pages 589-593.
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Wan-Yu Cheng, Shang-Ying Yang, Xiao-Yu Huang, Fei-Yin Zi, Hui-Ping Li & Xun-Lun Sheng. (2022) Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography. Frontiers in Genetics 13.
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Liyan Xu, Kaili Yang, Shanshan Yin, Yuwei Gu, Qi Fan, Yawen Wang, Dongqing Zhao & Shengwei Ren. (2022) Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families. Frontiers in Genetics 13.
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