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2010 | 1 |
2024 | 1 |
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A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family.
Mol Vis. 2010 Mar 30;16:549-55.
Mol Vis. 2010.
PMID: 20361012
Free PMC article.
RESULTS: The initial homozygosity screening of 13 known autosomal recessive loci resulted in negative LOD (logarithm of odds) scores. The aphakia phenotype suggested a mutation in FOXE3 close to the AR-locus 1p34.3-p32.2, and sequence analyses revealed the nonsense mutatio …
RESULTS: The initial homozygosity screening of 13 known autosomal recessive loci resulted in negative LOD (logarithm of odds) scores. …
Correlation of anterior segment optical coherence tomography and ultrasound biomicroscopy in congenital corneal opacity.
Yangzes S, Kaushik S, Malhotra C, Thakur A, Gupta A, Jain AK, Jinagal J, Pandav SS.
Yangzes S, et al.
J AAPOS. 2024 Apr;28(2):103863. doi: 10.1016/j.jaapos.2024.103863. Epub 2024 Mar 6.
J AAPOS. 2024.
PMID: 38458600
Fourteen eyes were diagnosed with Peters anomaly, congenital corneal staphyloma was observed in 4 eyes, 2 eyes had coloboma, 1 eye had peripheral sclerocornea, and 1 eye was diagnosed with congenital primary aphakia. ...
Fourteen eyes were diagnosed with Peters anomaly, congenital corneal staphyloma was observed in 4 eyes, 2 eyes had coloboma, 1 eye ha …
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