Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
| Autor: | Elias O. Da Silva, Judith A. Goodship, Cecilia Espinoza-Valdez, J. Helen Blair, Ben C.J. Hamel, Michael Wright, Stuart W. Tompson, John L. Gibbs, Victor L. Ruiz-Perez, Ian D. Young, Pablo Lapunzina |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Ellis-Van Creveld Syndrome Molecular Sequence Data Genes Recessive Consanguinity Biology medicine.disease_cause Conserved sequence Exon Report Genotype Genetics medicine Animals Humans Point Mutation Genetics(clinical) Conserved Sequence Genetics (clinical) Ellis–van Creveld syndrome Sequence Deletion Mutation Point mutation Fishes Chromosome Mapping Proteins Exons medicine.disease Phenotype Pedigree Amino Acid Substitution Genetic defects of metabolism [UMCN 5.1] Intercellular Signaling Peptides and Proteins Female |
| Zdroj: | American Journal of Human Genetics, 72, 728-32 American Journal of Human Genetics, 72, 3, pp. 728-32 |
| ISSN: | 0002-9297 |
| Popis: | Item does not contain fulltext Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable. |
| Databáze: | OpenAIRE |
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