Diagnosing Harboyan syndrome in a patient with multiple variants of uncertain significance (VUS)

Diagnosing Harboyan syndrome in a patient with multiple variants of uncertain significance (VUS)

Abstract Purpose Harboyan syndrome is a rare autosomal recessive condition comprised of congenital hereditary endothelial dystrophy (CHED) and progressive, bilateral sensorineural hearing loss (SNHL) with a typical onset of 10–25 years of age. Homozygous or compound heterozygous pathogenic variants...

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Bibliographic Details
Main Authors: Sloane Clay, Adele K. Evans, Regina Zambrano, Luc Courtois, Lena Al-Dujaili, Belinda Mantle, Fern Tsien
Format: Article
Language:English
Published: Springer 2025-07-01
Series:Journal of Rare Diseases
Subjects:
Sensorineural hearing loss
Congenital hereditary endothelial dystrophy
Harboyan syndrome
SLC4A11
Variant of uncertain significance
Deafness blindness syndrome
Online Access:https://doi.org/10.1007/s44162-025-00102-0
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https://doi.org/10.1007/s44162-025-00102-0

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