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

Abstract	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 underlying biallelic SLC4A4 mutations.
Authors	Arif O Khan, Omar S Basamh
Journal	Ophthalmic genetics (Ophthalmic Genet) Vol. 39 Issue 4 Pg. 425-427 (08 2018) ISSN: 1744-5094 [Electronic] England
PMID	29671668 (Publication Type: Case Reports, Journal Article)
Chemical References	3' Untranslated Regions SLC4A4 protein, human Sodium-Bicarbonate Symporters
Topics	3' Untranslated Regions (genetics) Adult Child Child, Preschool Consanguinity Corneal Dystrophies, Hereditary (diagnosis, genetics) Female Glaucoma (diagnosis, genetics) Humans Infant Intraocular Pressure Male Mutation Retrospective Studies Sodium-Bicarbonate Symporters (genetics) Tonometry, Ocular Young Adult

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!