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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1997-2017
02419972017

Papers overview

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2012
2012
Pax gene haploinsufficiency causes a variety of congenital defects. Renal-coloboma syndrome, resulting from mutations in Pax2, is… (More)
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2010
2010
Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially… (More)
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2010
2010
Papillorenal syndrome also known as renal-coloboma syndrome (OMIM 120330) is an autosomal dominant condition comprising optic… (More)
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2009
2009
Papillo-Renal Syndrome (PRS, or Renal-Coloboma Syndrome) is an autosomal dominant disorder, characterized by colobomatous eye… (More)
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2008
2008
PURPOSE Papillorenal syndrome is an autosomal dominant entity due to PAX2 gene mutation, involving optic nerve and renal… (More)
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2007
2007
BACKGROUND Renal-coloboma syndrome (RCS) is an autosomal dominant disorder characterized by renal abnormalities and optic nerve… (More)
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2003
2003
Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye… (More)
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2001
2001
PURPOSE To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital… (More)
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2001
2001
Renal-coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it… (More)
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1997
1997
Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two… (More)
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