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Article

A single-base substitution in the seed region of miR-184 causes EDICT syndrome.

Investigative ophthalmology & visual science - 25 Jan 2012

Iliff Benjamin W, Riazuddin S Amer, Gottsch John D

Abstract excerpt

PURPOSE: To investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT). METHODS: Previously a multigenerational family was reported that comprised 10 individuals affected by syndromal anterior segment dysgenesis. Blood samples were re-collected from eight affected and two unaffected individuals, and genomic DNA was extracted. A...

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Identifiers

PMID: 22131394
DOI: 10.1167/iovs.11-8783
PMCID: PMC3292370

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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.

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A single-base substitution in the seed region of miR-184 causes EDICT syndrome.PMID 22131394Read ↗

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C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, SpainSemantic proximity Read ↗

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Independent origin of c.57 C > T mutation in MIR184 associated with inherited corneal and lens abnormalities.Semantic proximity Read ↗

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Mutational Analysis of Pre-miR-184 and hsa-mir-568 in Greek Patients With Sporadic Keratoconus.Semantic proximity Read ↗

A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.Semantic proximity Read ↗

Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia.Semantic proximity Read ↗

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