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Article

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

Ophthalmic genetics - 1 Apr 2022

Lin Qinghong, Zheng Lin, Shen Zhengwei

Abstract excerpt

BACKGROUND: This study aims to investigate the genetic abnormalities in a two-generation Chinese family affected by keratoconus (KC). A two-generation Chinese family affected by KC was studied. MATERIALS AND METHODS: A total of 118 unrelated healthy individuals without KC were recruited as controls. The family history, clinical data, and peripheral blood leukocytes were collected from all subjects. Whole exome...

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PMID: 34895010
DOI: 10.1080/13816810.2021.2015788

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