Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype–Phenotype Correlation

Conclusions: We report a novel homozygous SLC4A11 variant with a previously undocumented phenotype of CHED in association with prelingual sensorineural hearing loss and hydronephrosis, thus broadening our understanding of the spectrum of genotypic and phenotypic findings of Harboyan syndrome.
Source: Cornea - Category: Opthalmology Tags: Case Report Source Type: research