Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.

Journal of human genetics - 1 Feb 2021

Tananuvat Napaporn, Tananuvat Rak, Chartapisak Wattana, Mahanupab Pongsak, Hokierti Chananya, Srikummool Metawee, Kampuansai Jatupol, Intachai Worrachet, Olsen Bjorn, Ketudat Cairns James R, Kantaputra Piranit

Abstract excerpt

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 from seven unrelated families affected with Harboyan Syndrome with mean follow-up of 12.0 ± 0.9 years were thoroughly investigated for the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anion Transport Proteins
Share to Antiporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Dystrophies, Hereditary

Share to Corneal Transplantation

Share to Founder Effect

Share to Hearing Loss, Sensorineural

Share to Infant

Share to Protein Conformation

Source

Identifiers

PMID: 32884076
DOI: 10.1038/s10038-020-00834-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.PMID 32884076Read ↗

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Semantic proximity Read ↗

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)Semantic proximity Read ↗

Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.Semantic proximity Read ↗

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.Semantic proximity Read ↗

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.Semantic proximity Read ↗

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.Semantic proximity Read ↗

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.Semantic proximity Read ↗

Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.Semantic proximity Read ↗

Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.Semantic proximity Read ↗

Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants.Semantic proximity Read ↗

Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.Semantic proximity Read ↗

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.