Corneal Dystrophy and Perceptive Deafness Latest Advances

Collagen IV in Gould syndrome and Alport syndrome.

Journal: Nature reviews. Nephrology

Published: June 19, 2025

19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: January 27, 2025

Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 07, 2025

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome.

Journal: Arquivos brasileiros de oftalmologia

Published: March 29, 2023

The origins of the full-field flash electroretinogram b-wave.

Journal: Frontiers in molecular neuroscience

Published: January 30, 2023

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

Journal: American journal of ophthalmology

Published: September 04, 2022

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.

Journal: Ophthalmic genetics

Published: June 08, 2022

Waardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: May 26, 2022

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation.

Journal: Cornea

Published: April 19, 2022

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Journal: Molecular biology reports

Published: May 18, 2021

Harboyan Syndrome.

Journal: Journal of Ayub Medical College, Abbottabad : JAMC

Published: March 23, 2021

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.

Journal: BMC ophthalmology

Published: December 14, 2020

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Collagen IV in Gould syndrome and Alport syndrome.

Collagen IV in Gould syndrome and Alport syndrome.

19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.

19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.

Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.

Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome.

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness: a case report of Harboyan syndrome.

The origins of the full-field flash electroretinogram b-wave.

The origins of the full-field flash electroretinogram b-wave.

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.

Harboyan syndrome with biallelic SLC4A11 pathogenic variants misdiagnosed as congenital CMV infection.

Waardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery.

Waardenburg syndrome-associated neurotrophic keratopathy in a child treated with neurotization surgery.

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation.

Harboyan Syndrome: A Novel SLC4A11 Variant With Unique Genotype-Phenotype Correlation.

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Harboyan Syndrome.

Harboyan Syndrome.

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.