Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00834-5
Abstract: Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients… read more here.
Keywords: harboyan syndrome; hearing loss; slc4a11; mutation ... See more keywords
Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2083182
Abstract: ABSTRACT Harboyan syndrome is a rare autosomal recessive disorder characterised by congenital hereditary endothelial dystrophy (CHED), with a later onset of sensorineural hearing loss, due to pathogenic variants in the SLC4A11 gene. Congenital cytomegalovirus (CMV)… read more here.
Keywords: pathogenic variants; harboyan syndrome; cmv infection; cmv ... See more keywords
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