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Papillorenal syndrome

Known as: PAPRS, Renal Coloboma Syndrome, RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES 
A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and… 
National Institutes of Health

Related topics

Related topics

20 relations
Arnold-Chiari Malformation, Type IAutosomal dominant inheritanceCakutChorioretinal degeneration

Broader (2)

Congenital ocular coloboma (disorder)Renal Insufficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation
BackgroundRenal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is… 
2005
2005
Early diagnosis of the papillorenal syndrome by optic disc morphology.
The morphology of optic disc dysplasia is the most consistent finding in the papillorenal syndrome, an autosomal-dominant… 
Review
2003
Review
2003
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome
Cat eye syndrome (CES) is a rare malformation syndrome with a variable pattern of congenital anomalies. The characteristic… 
Highly Cited
1999
Highly Cited
1999
Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.
1994
1994
Partially acidulated phosphate rocks: Controlled release phosphorus fertilizers for more sustainable agriculture
Phosphate rocks partially acidulated either with H3PO4 or H2SO4 were compared against SSP or TSP as phosphate fertilizers for… 
1991
1991
Comparison of five soil testing methods to establish phosphorus sufficiency levels in soil fertilized with water-soluble and sparingly soluble-P sources
Field experiments were conducted in Niger with pearl millet (Pennisetum glaucum [L] R. Br.) in which the crop was fertilized with… 
1990
1990
Influence of manufacturing variables on characteristics and the agronomic value of partially acidulated phosphate fertilizers
Partially acidulated phosphate fertilizers are manufactured either by direct partial acidulation of phosphate rocks (PRs) with… 
1986
1986
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.
Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of… 
1984
1984
Workplace protection factor measurements on powered air-purifying respirators at a secondary lead smelter: results and discussion.
A study was conducted at a secondary lead smelter to evaluate the workplace performance of the 3M W-344 and Racal AH3 powered air… 
1954
1954
Congenital Ectropion of the Upper Lids
This report of a case of congenital ectropion is presented 
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