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Authors
Galdzicka, MarzenaPatnala, Sujatha
Hirshman, M. G.
Cai, J-F
Nitowsky, H.
Egeland, J. A.
Ginns, Edward I.
UMass Chan Affiliations
Brudnick Neuropsychiatric Research Institute, Department of PsychiatryDepartment of Pediatrics
Document Type
Journal ArticlePublication Date
2002-12-01Keywords
Ellis-Van Creveld SyndromeFemale
Genetic Heterogeneity
Humans
*Jews
Male
Pedigree
Proteins
Sequence Analysis, DNA
Neurology
Pediatrics
Psychiatry
Metadata
Show full item recordAbstract
Ellis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified mutations in the EVC gene located on chromosome 4p16 have only accounted for illness in a small proportion of affected individuals. In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome. Our findings demonstrate for the first time that the heterogeneity observed in this disorder is not solely the result of mutations in a single gene.Source
Mol Genet Metab. 2002 Dec;77(4):291-5. DOI 10.1016/S1096-7192(02)00178-6DOI
10.1016/S1096-7192(02)00178-6Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43527PubMed ID
12468274Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1016/S1096-7192(02)00178-6