Article
The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome.
Gene - 10 Mar 2013
Rodríguez-López Raquel, Pérez José M Carbonell, Balsera Aránzazu Margallo, Rodríguez Guillermo Gervasini, Moreno Trinidad Herrera, García de Cáceres Mayte, Serrano Marta González-Carpio, Freijo Felipe Casanueva, Ruiz Juan Ramón González, Angueira Francisco Barros, Pérez Pilar Méndez, Estévez Manuela Núñez, Gómez Enrique Galán
Abstract excerpt
Individuals who are carriers of deletions of various sizes that cause haploinsufficiency in the contiguous WT1 and PAX6 genes, located on chromosome 11p13 approximately 4 Mb centromeric to the BDNF gene, are susceptible to Wilms tumor, aniridia, mental retardation, genitourinary anomalies and obesity (WAGRO syndrome). The molecular characterization of the wide deletion 11p15.1p12 arr (18676926-36576388) x1 dn in...
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