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Article

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.

Investigative ophthalmology & visual science - 1 Jun 2022

Young Terri L, Whisenhunt Kristina N, LaMartina Sarah M, Hewitt Alex W, Mackey David A, Tompson Stuart W

Abstract excerpt

Purpose: To identify the genetic basis of an unusual pediatric cortical cataract demonstrating autosomal dominant inheritance in a large European-Australian pedigree. Methods: DNA from four affected individuals were exome sequenced utilizing a NimbleGen SeqCap EZ Exome V3 kit and HiSeq 2500. DNA from 12 affected and four unaffected individuals were genotyped using Human OmniExpress-24 BeadChips. Multipoint...

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Identifiers

PMID: 35749127
DOI: 10.1167/iovs.63.6.25
PMCID: PMC9234370

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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