Article
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.
Veterinary pathology - 1 Sept 2015
Muscatello L V, Benazzi C, Dittmer K E, Thompson K G, Murgiano L, Drögemüller C, Avallone G, Gentile A, Edwards J F, Piffer C, Bolcato M, Brunetti B
Abstract excerpt
Ellis-van Creveld (EvC) syndrome is a human autosomal recessive disorder caused by a mutation in either the EVC or EVC2 gene, and presents with short limbs, polydactyly, and ectodermal and heart defects. The aim of this study was to understand the pathologic basis by which deletions in the EVC2 gene lead to chondrodysplastic dwarfism and to describe the morphologic, immunohistochemical, and molecular hallmarks of...
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