Ellis-vanCreveld syndrome

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A hereditary disease characterized by shortening of the forearms and lower legs, extra fingers, and congenital heart malformations. The condition was first described by Richard Ellis and Simon vanCreveld in 1940. Fifty cases of EVC syndrome that occurred in the Amish (q.v.) community of Lancaster County have been traced back to a single couple who emigrated to Pennsylvania in 1744. The disease has been shown to be due to a mutation in an intron of the EVC gene that causes aberrant splicing. This gene has been mapped to 4p16, and it encodes a protein that contains 992 amino acids. The function of the EVC protein has not been determined. See posttranscriptional processing.

Subjects: Genetics and Genomics.

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