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Krause-Kivlin syndrome

Known as: Peters anomaly with short limb dwarfism, Peters Plus Syndrome, Peters Anomaly With Short-Limb Dwarfism 
A rare, autosomal recessive inherited syndrome caused by mutations in the B3GALTL gene. It is characterized by abnormalities in the anterior chamber… 
National Institutes of Health

Related topics

Related topics

46 relations
Agenesis of corpus callosumAtrial Septal DefectsAutosomal recessive inheritanceBilobate gallbladder

Broader (4)

Cleft LipCorneaGrowth DisordersLimb Deformities, Congenital

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Discrimination of Nuclear Explosions against Civilian Sources Based on Atmospheric Xenon Isotopic Activity Ratios
A global monitoring system for atmospheric xenon radioactivity is being established as part of the International Monitoring… 
Highly Cited
2010
Highly Cited
2010
Concentrations of condensed tannins and anthocyanins in common bean seed coats
Highly Cited
2009
Highly Cited
2009
Geotechnical properties of fresh municipal solid waste at Orchard Hills Landfill, USA.
Highly Cited
2008
Highly Cited
2008
Demographic correlates of psychotic‐like experiences in young Australian adults
Objective:  Psychotic‐like experiences (PLE) in the general community are common. The aims of this study were to examine the… 
Highly Cited
2007
Highly Cited
2007
Novel platinum(II)-based anticancer complexes and molecular hosts as their drug delivery vehicles.
Platinum(II)-based DNA intercalators where the intercalating ligand is 1,10-phenanthroline or a phenanthroline derivative and… 
Highly Cited
2006
Highly Cited
2006
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate… 
Highly Cited
2003
Highly Cited
2003
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Review
2002
Review
2002
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.
A paired homeodomain transcription factor, PAX6, is a well-known regulator of eye development, and its heterozygous mutations in… 
Highly Cited
1995
Highly Cited
1995
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
Autosomal dominant keratitis (ADK) is an eye disorder chiefly characterized by corneal opacification and vascularization and by… 
Review
1975
Review
1975
Mesenchymal dysgenesis in Peter's anomaly, sclerocornea and congenital endothelial dystrophy.
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