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

doi:10.5005/cods-6-1-40

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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: 01-06-2014

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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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Ellis-van Creveld Syndrome: A report of two cases. Pediatr Dermatol. 2001;18:485-9.
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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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.
Syndromes of the head and neck. 3rd ed. New York: Oxford Univ Press, 1990;201-4.

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