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Congenital cataract

Known as: CATARACT CONGENITAL, Cataracts, congenital, Cataract, congenital 
Cataract that is present at birth.
National Institutes of Health

Related topics

Related topics

29 relations
Bilateral cataracts (disorder)CCA1 geneCCV geneCUTIS LAXA, AUTOSOMAL DOMINANT 3

Narrower (1)

Embryonal nuclear cataract (disorder)

Broader (1)

Fetal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
The genetic and molecular basis of congenital cataract.
Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy, with an estimated… 
Review
2009
Review
2009
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
PURPOSE Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract… 
Review
2008
Review
2008
Congenital cataracts and their molecular genetics.
Highly Cited
2002
Highly Cited
2002
Shotgun identification of protein modifications from protein complexes and lens tissue
Large-scale genomics has enabled proteomics by creating sequence infrastructures that can be used with mass spectrometry data to… 
Highly Cited
2002
Highly Cited
2002
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity… 
Highly Cited
2001
Highly Cited
2001
Congenital cataract following German measles in the mother
INTRODUCTION Sir Norman McAlister Gregg’s epoch making paper, which demonstrated that maternal rubella caused developmental… 
Highly Cited
1998
Highly Cited
1998
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal… 
Highly Cited
1995
Highly Cited
1995
Lens epithelial cell apoptosis appears to be a common cellular basis for non-congenital cataract development in humans and animals
Cataract is a major ocular disease that causes blindness in many developing countries of the world. It is well established that… 
Highly Cited
1994
Highly Cited
1994
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA–binding protein. To study this… 
Highly Cited
1941
Highly Cited
1941
CONGENITAL CATARACT FOLLOWING GERMAN MEASLES IN THE MOTHER
References to articles and books should be carefully checked. In a reference the following infonnation should be given without… 
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