FAQ

GLAUCOMA 3, PRIMARY CONGENITAL, A

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

Topic mentions per year

Topic mentions per year

1995-2014
02419952014

Related topics

Related topics

5 relations
Autosomal recessive inheritanceCYP1B1 wt AlleleGenetic HeterogeneityHydrophthalmos

Broader (1)

Glaucoma

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
GLAUCOMA 3, PRIMARY CONGENITAL, A
Glaucoma
Autosomal recessive inheritance
Genetic Heterogeneity
Hydrophthalmos
CYP1B1 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
Primary congenital glaucoma (PCG) is a childhood autosomal-recessive disorder caused by developmental defects in the trabecular… (More)
  • table 1
  • figure 1
  • table 2
  • table 3
  • figure 2
Is this relevant?
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… (More)
Is this relevant?
2003
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… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 3
Is this relevant?
2001
2001
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
PURPOSE To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and… (More)
Is this relevant?
Highly Cited
1999
Highly Cited
1999
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.
Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome…
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital… (More)
Is this relevant?
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… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
1996
Highly Cited
1996
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.
Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?
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… (More)
Is this relevant?