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Article

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

Ophthalmology - 1 Apr 2004

Mintz-Hittner Helen A, Semina Elena V, Frishman Laura J, Prager Thomas C, Murray Jeffrey C

Abstract excerpt

PURPOSE: To present a previously unreported African American family with 1 variation and 1 mutation of the homeobox transcription factor gene, VSX1 (RINX), and to describe the clinical features of family members. DESIGN: Family genotype and clinical studies. PARTICIPANTS: A 3-generation family with 7 available family members. METHODS: Blood was drawn from all available family members, and the VSX1 (RINX) gene was...

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Source

Identifiers

PMID: 15051220
DOI: 10.1016/j.ophtha.2003.07.006

Genes

VSX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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