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

Corneal endothelial cell abnormalities in X-linked Alport syndrome.

Ophthalmic genetics - 1 Feb 2020

Nicklason Eleanor, Mack Heather, Beltz Jacqueline, Jacob Julie, Farahani Mina, Colville Deb, Savige Judy

Abstract excerpt

Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and eye. This study investigated individuals with X-linked Alport syndrome for corneal abnormalities.Patients and Methods: Six men and four women from 8 families with genetically-diagnosed X-linked Alport syndrome underwent ophthalmological examination including slit lamp examination and...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Case-Control Studies
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Corneal Diseases

Share to Endothelium, Corneal

Share to Mutation

Share to Nephritis, Hereditary

Share to Prognosis

Source

Identifiers

PMID: 32159412
DOI: 10.1080/13816810.2019.1709126

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Corneal endothelial cell abnormalities in X-linked Alport syndrome.PMID 32159412Read ↗

Ocular features in Alport syndrome: pathogenesis and clinical significance.Semantic proximity Read ↗

Ocular manifestations of autosomal recessive Alport syndromeSemantic proximity Read ↗

Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.Semantic proximity Read ↗

A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.Semantic proximity Read ↗

Novel corneal phenotype in a patient with alport syndrome.Semantic proximity Read ↗

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Semantic proximity Read ↗

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.Semantic proximity Read ↗

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.Semantic proximity Read ↗

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).Semantic proximity Read ↗

A new, X-linked endothelial corneal dystrophy.Semantic proximity Read ↗

Genetics of the corneal endothelial dystrophies: an evidence-based reviewSemantic proximity Read ↗

Temporal macular thinning associated with X-linked Alport syndrome.Semantic proximity Read ↗

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