CASE REPORT
Ellis-van Creveld syndrome affecting siblings: A case report and review
Rajeshwari G. Annigeri, V.V. Subba Reddy, G.P. Mamatha, Manisha Jadhav, P. Poornima
Citation Information :
Annigeri RG, Reddy VS, Mamatha G, Jadhav M, Poornima P. Ellis-van Creveld syndrome affecting siblings: A case report and review. CODS J Dent 2014; 6 (1):40-44.
DOI:
10.5005/cods-6-1-40
License:
CC BY-NC-ND 3.0
Published Online:
00-06-2014
Copyright Statement:
Copyright © 2014; Jaypee Brothers Medical Publishers (P) Ltd.
Abstract
How to cite this article
Mamatha GP, Manisha J, Rajeshwari GA, Poornima P, Subba Reddy VV. Ellis-van Creveld syndrome affecting siblings – A case report and review. CODS J Dent 2014;6;40-44
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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007;120:663-70.
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Chondroectodermal dysplasia (Ellis van Creveld syndrome): A report of three cases with review of literature. Indian J Dent Res 2007;18(1):31-4.
The gene for Ellis –van Creveld syndrome maps to chromosome 4p16. Am J Hum Genet 1995;579(suppl):the A191.
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics. 1996;35(1):1-5.
Mutations in two nonhomologous genes in ahead-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. 2003 Mar; 72(3):728-32.
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