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Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

Rocio Núñez-Torres12, Raquel M Fernández12, Manuel Jesus Acosta12, Maria del Valle Enguix-Riego12, Martina Marbá3, Juan Carlos de Agustín4, Luis Castaño5, Guillermo Antiñolo12 and Salud Borrego12*

Author Affiliations

1 Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal. Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain

2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain

3 Departamento de Genómica y Bioinformática. Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

4 Unidad de Gestión Clínica de Cirugía Infantil, Hospital Universitario Virgen del Rocío, Sevilla, Spain

5 Grupo de investigación en Endocrinología y Diabetes, Hospital de Cruces, Vizcaya, Spain

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BMC Medical Genetics 2011, 12:138  doi:10.1186/1471-2350-12-138

Published: 13 October 2011

Additional files

Additional File 1:

Calculations of OR and GOR values. OR (95% CI) and the generalized OR (GOR) (95% CI) were calculated for the recessive, dominant and additive models for each variant (unadjusted and adjusted for gender).

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