Mutations in the EVC1 gene are not a common finding in the Ellis‐van Creveld and short rib‐polydactyly type III syndromes
- 24 August 2004
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 130A (1) , 96-97
- https://doi.org/10.1002/ajmg.a.20579
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld SyndromeAmerican Journal of Human Genetics, 2003
- A new gene, EVC2, is mutated in Ellis–van Creveld syndromeMolecular Genetics and Metabolism, 2002
- Diagnostic dilemmas in the short rib–polydactyly syndrome groupAmerican Journal of Medical Genetics, 2002
- Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromesEuropean Journal of Human Genetics, 2000
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisNature Genetics, 2000
- The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16Genomics, 1996
- Short rib-polydactyly syndrome and pericentric inversion of chromosome 4American Journal of Medical Genetics, 1994
- Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: A clinicopathologic studyAmerican Journal of Medical Genetics, 1987