Clinical reassessments and whole-exome sequencing uncover novel < em > BEST1 < /em > mutation associated with bestrophinopathy phenotype

CONCLUSIONS: Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.PMID:34751623 | DOI:10.1080/13816810.2021.1998553

Source: Ophthalmic Genetics - November 9, 2021 Category: Opthalmology Authors: Susmita Chowdhury Roopam Duvesh Manojkumar Kumaran Rupa Anjanamurthy Jayant Kumar Ayyasamy Vanniarajan Bharanidharan Devarajan Periasamy Sundaresan Source Type: research