A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.

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Published in Ann Hum Genet on October 20, 2008

Authors

R M Fernández1, A Sánchez-Mejías, M D Mena, M Ruiz-Ferrer, M López-Alonso, G Antiñolo, S Borrego

Author Affiliations

1: Unidad de Gestión Clínica de Genética, Reproducción, y Medicina Fetal, Hospitales Universitarios Virgen del Rocío, Seville, Spain.

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