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

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Atrial Septal DefectsAutosomal recessive inheritanceCartilage DiseasesCommon atrium
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Jeune thoracic dystrophy

Papers overview

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Review
2017
Review
2017
UniProt: the universal protein knowledgebase
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
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients
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
Oral manifestations in Ellis-van Creveld syndrome: report of five cases.
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
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
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
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
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
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
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
Ellis-van Creveld syndrome and the Amish
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
Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies.
Ellis-van Creveld syndrome (EvC), also called chondroectodermal dysplasia, is a rare occurrence inherited as an autosomal… (More)
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1990
1990
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?
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
[Ellis van Creveld syndrome].
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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