Literature record
Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.
PMID 29671668 | DOI 10.1080/13816810.2018.1459738 · Ophthalmic genetics · 2018
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.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC4A4 | “Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “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.” | 0.98 | phenotype_alias_lexicon_v2 |