Disease: Corneal dystrophy and perceptive deafness
- A further observation of corneal dystrophy and perceptive deafness in two siblings
- A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome
- A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing
- Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties
- Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene
- Alport Syndrome
- Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
- Clinical and molecular characterization of an extended family with Fabry disease
- Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families
- Comment on 'A further observation of corneal dystrophy and perceptive deafness in two siblings'
- Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)
- Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome
- Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
- Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13
- Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation
- Familial pathologic myopia, corneal dystrophy, and deafness: a new syndrome
- Familial systemic amyloidosis associated with bilateral sensorineural hearing loss and bilateral facial palsies
- Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families
- Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations
- Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy
- Harboyan Syndrome
- Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection
- Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation
- Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation
- High Throughput Assay Identifies Glafenine as a Corrector for the Folding Defect in Corneal Dystrophy-Causing Mutants of SLC4A11
- Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing
- Lenticonus
- Maculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome
- Mouse Slc4a11 expressed in Xenopus oocytes is an ideally selective H+/OH- conductance pathway that is stimulated by rises in intracellular and extracellular pH
- Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants
- Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations
- Posterior polymorphous dystrophy and Alport syndrome
- Presumed atypical HDR syndrome associated with Band Keratopathy and pigmentary retinopathy
- Rehabilitation with cochlear implant in patient with harboyan syndrome
- Renal, auricular, and ocular outcomes of Alport syndrome and their current management
- Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities
- SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families
- SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria
- Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases
- Waardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery