Ellis-Van Creveld Syndrome

Known as: CHONDROECTODERMAL DYSPLASIA, Ellis Van Creveld Syndrome, Dysplasia, Chondroectodermal 
A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
The UniProt knowledgebase is a large resource of protein sequences and associated detailed annotation. The database contains over… (More)
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2006
2006
Ellis–van Creveld syndrome (EvC) is caused by mutations in EVC and EVC2, genes in a divergent orientation separated by only 2.6… (More)
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2004
2004
Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical… (More)
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Highly Cited
2003
Highly Cited
2003
Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in… (More)
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2002
2002
Ellis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified… (More)
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Highly Cited
2000
Highly Cited
2000
Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short… (More)
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2000
2000
Genetic studies often involve the cooperation of large numbers of affected persons and their families. The discovery of the gene… (More)
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1998
1998
Ellis-van Creveld syndrome (EvC), also called chondroectodermal dysplasia, is a rare occurrence inherited as an autosomal… (More)
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1990
1990
We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who… (More)
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1990
1990
The last two cases of Ellis van Creveld syndrome diagnosed in the Neonatology Service of our department are presented and the… (More)
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