Pseudoxanthoma Elasticum, Incomplete

Known as: Pseudoxanthoma Elasticum, Forme Fruste, Elasticum, Incomplete Pseudoxanthoma, Elasticums, Incomplete Pseudoxanthoma 
 
National Institutes of Health

Papers overview

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2009
2009
The detection of keratoconus is a major concern in the screening of refractive surgical patients, since it is known that its… (More)
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Review
2007
Review
2007
Advocacy organizations for genetic diseases are increasingly becoming involved in biomedical research, particularly translational… (More)
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Review
2005
Review
2005
Pseudoxanthoma elasticum (PXE) is an inherited systemic disease of connective tissue primarily affecting the skin, retina, and… (More)
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2003
2003
OBJECTIVE Proteoglycans organize the extracellular matrix, act as signaling molecules, and are involved in cell migration and… (More)
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2003
2003
Mutations in the methyl-CpG-binding protein-2 (MECP2) gene on Xq28 have been found to be a cause of Rett syndrome (RS). In a… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations in the ABCC6 (MRP6) gene cause pseudoxanthoma elasticum (PXE), a rare heritable disorder resulting in the calcification… (More)
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Highly Cited
2000
Highly Cited
2000
Pseudoxanthoma elasticum (PXE), the prototypic heritable connective tissue disorder affecting the elastic structures in the body… (More)
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2000
2000
We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma… (More)
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Highly Cited
1998
Highly Cited
1998
We report an iatrogenic corneal ectasia that developed after laser in situ keratomileusis (LASIK) in a case of forme fruste… (More)
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Review
1994
Review
1994
 
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