Criteria to Detect Minimal Expressivity Within Families With Autosomal Dominant Aniridia
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference8 articles.
1. Chromosomal imbalance in the aniridia-Wilms' tumor association. 11p interstitial deletion;Riccardi;Pediatrics,1978
2. Autosomal dominant aniridia. Probable linkage to acid phosphatase-1 locus on chromosome 2;Ferrell;Proc. Natl. Acad. Sci. U.S.A.,1980
3. A panel of restriction fragment length polymorphisms for chromosomal band 11p13;Huff;Hum. Genet.,1990
4. Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13;Lyons;Genomics,1992
5. Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria;Hittner;Am. J. Ophthalmol.,1980
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1. Genotype–phenotype correlation of PAX6 gene mutations in aniridia;Human Genome Variation;2016-02-11
2. The Paediatric Patient: Identifying Congenital Aniridia as Soon as Possible;Aniridia;2015
3. PAX6mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?;Clinical & Experimental Ophthalmology;2013-05-03
4. Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation;American Journal of Ophthalmology;2013-05
5. Classification and Staging of Ocular Surface Disease;Cornea;2011
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