Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.

doi:10.1080/13816810.2018.1459738

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

Community

Back to search

Article

Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.

Ophthalmic genetics - 1 Aug 2018

Khan Arif O, Basamh Omar S

Abstract excerpt

Biallelic mutations in the gene SLC4A4 (Solute Carrier Family 4 Member 4) cause protean manifestations in children that include proximal retinal tubular acidosis, developmental delay, band keratopathy, and glaucoma. A unique SLC4A4 mutation causes an ocular-only phenotype. In this retrospective case series, we highlight our experience with children referred to a pediatric ophthalmologist who were found to harbor...

Read the complete abstract on PubMed

Topics

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

Share to 3' Untranslated Regions
Share to Consanguinity
Share to Corneal Dystrophies, Hereditary
Share to Glaucoma

Source

Open in PubMed

Identifiers

PMID: 29671668
DOI: 10.1080/13816810.2018.1459738

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant

Share to Intraocular Pressure

Share to Sodium-Bicarbonate Symporters

Share to Tonometry, Ocular