Hydrophthalmos

Known as: Childhood glaucoma, BUPHTMALMOS, BUPHTHALMOS 
Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of… (More)
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually… (More)
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Highly Cited
2006
Highly Cited
2006
We recently described a new neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy… (More)
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Highly Cited
2002
Highly Cited
2002
"Early-onset glaucoma" refers to genetically heterogeneous conditions for which glaucoma manifests at age 5-40 years and for… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in the forkhead transcription-factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye… (More)
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Highly Cited
1998
Highly Cited
1998
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to… (More)
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Highly Cited
1998
Highly Cited
1998
We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital… (More)
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Highly Cited
1998
Highly Cited
1998
Myopia, or nearsightedness, is the most common human eye disorder. A genomewide screen was conducted to map the gene(s… (More)
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Highly Cited
1998
Highly Cited
1998
The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular… (More)
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Highly Cited
1997
Highly Cited
1997
Primary congenital glaucoma (Buphthalmos) is an autosomal recessive eye disorder, postulated to result from developmental defects… (More)
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