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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… 
National Institutes of Health

Related topics

Related topics

26 relations

Narrower (2)

Asphyxiating Thoracic Dystrophy 2Jeune thoracic dystrophy
Atrial Septal DefectsAutosomal recessive inheritanceCartilage DiseasesCommon atrium

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Ellis-van Creveld syndrome in an Indian child: a case report
Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome… 
Review
2008
Review
2008
DWARF GALAXY STARBURST STATISTICS IN THE LOCAL VOLUME
An unresolved question in galaxy evolution is whether the star formation histories (SFHs) of low-mass systems are preferentially… 
Highly Cited
2007
Highly Cited
2007
A model for the recognition of protein kinases based on the entropy of 3D van der Waals interactions.
The study and prediction of kinase function (kinomics) is of major importance for proteome research due to the widespread… 
Review
2004
Review
2004
High chimpanzee and gorilla densities in a non-protected area on the northern periphery of the Dja Faunal Reserve, Cameroon
Information on the densities of threatened species in non-protected areas is crucial for assessing the degree of isolation of… 
Highly Cited
1999
Highly Cited
1999
Effectiveness of current farming systems in the control of dryland salinity
Highly Cited
1994
Highly Cited
1994
Quasiclassical transport at a van Hove singularity in cuprate superconductors.
The cuprate superconductors continue to pose a key problem as to the microscopic origin of their anomalous properties, which are… 
Highly Cited
1982
Highly Cited
1982
Diagnosis of fetal skeletal dysplasias with ultrasound.
Highly Cited
1981
Highly Cited
1981
Model Calculations of Potential Surfaces of van der Waals Complexes Containing Large Aromatic Molecules
In this paper we report the results of model calculations of the nuclear potential surfaces of van der Waals complexes consisting… 
Highly Cited
1977
Highly Cited
1977
Socialism and the new life : the personal and sexual politics of Edward Carpenter and Havelock Ellis
1958
1958
Ellis‐Van Creveld Syndrome Report of Two Cases in Siblings
1. Two cases of the Ellis‐Van Creveld syndrome are presented. These are the first cases reported in siblings. 
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