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GLAUCOMA 3, PRIMARY CONGENITAL, A

Known as: GLAUCOMA 3, PRIMARY CONGENITAL A, GLC3A 
 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal recessive inheritanceCYP1B1 wt AlleleCYP1B1, PHE261LEUGenetic Heterogeneity
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Broader (1)

Glaucoma

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma
Purpose Primary congenital glaucoma (PCG) is an autosomal recessive form of glaucoma that manifests within the first year of life… Expand
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Highly Cited
2009
Highly Cited
2009
Null mutations in LTBP2 cause primary congenital glaucoma.
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually… Expand
2009
2009
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist
Purpose To assess whether loci other than GLC3A, GLC3B, and GLC3C are linked to primary congenital glaucoma (PCG). Methods The… Expand
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2009
2009
Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis
Purpose: To investigate whether the GLC3A locus harboring the CYP1B1 gene is associated with normal tension glaucoma (NTG) in… Expand
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Highly Cited
2003
Highly Cited
2003
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
Primary congenital glaucoma (PCG) is an autosomal recessive disease, caused by unknown developmental defect(s) of the trabecular… Expand
Highly Cited
2001
Highly Cited
2001
Primary Congenital Glaucoma: Three Case Reports on Novel Mutations and Combinations of Mutations in the GLC3A (CYP1B1) Gene
PurposeTo describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and… Expand
Highly Cited
2001
Highly Cited
2001
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly
Congenital glaucoma refers to a genetically heterogeneous group of distinctive clinical diseases characterised by increased… Expand
Review
1998
Review
1998
The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics
Important advances have been made within the past year in the area of glaucoma genetics, including the identification of the TIGR… Expand
Highly Cited
1997
Highly Cited
1997
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on…
Primary congenital glaucoma (Buphthalmos) is an autosomal recessive eye disorder, postulated to result from developmental defects… Expand
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Highly Cited
1995
Highly Cited
1995
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.
Primary congenital glaucoma (GLC3) is an inherited eye disorder that accounts for 0.01-0.04% of total blindness. Although a large… Expand
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