Article
A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.
International ophthalmology - 1 Apr 2021
Zhang Feng, Zhang Lusi, He Li, Cao Mengdan, Yang Yuting, Duan Xuanchu, Shi Jingming, Liu Ke
Abstract excerpt
PURPOSE: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by ocular anterior segment abnormalities. In the current study, we describe clinical and genetic findings in a Chinese ARS pedigree. METHODS: An ARS pedigree was recruited and patients were given comprehensive ophthalmic examinations and general physical examinations. DNA from the proband II:2 was used for exome sequencing....
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