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Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.

Susmita ChowdhuryRoopam DuveshManojkumar KumaranRupa AnjanamurthyJayant KumarAyyasamy VanniarajanBharanidharan DevarajanPeriasamy Sundaresan
Published in: Ophthalmic genetics (2021)
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.
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