Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype–Phenotype Correlation
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DOI: 10.1097/ico.0000000000003023
Abstract: Supplemental Digital Content is Available in the Text. Purpose: The purpose of this study was to describe the genotypic and phenotypic characteristics of an infant with a SLC4A11 mutation associated with bilateral corneal edema, hearing… read more here.
Keywords: slc4a11 variant; phenotype; harboyan syndrome; hearing loss ... See more keywords