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Síndrome de Bardet-Biedl: Aplicación diagnóstica de la secuenciación del exoma
Bardet-Biedl syndrome: Diagnostic usefulness of exome sequencing
G.Á. Martos Morenoa,b,c, B. Rodríguez-Santiagod,e, L. González Gutiérrez-Solanaf, L.A. Pérez-Juradoe,g, J. Argentea,b,c,
a Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, España
b Universidad Autónoma de Madrid, Departamento de Pediatría, Madrid, España
c CIBER Fisiopatología de la obesidad y nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, España
d Laboratorio qGenomics, Barcelona, España
e CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España
f Sección de Neurología, Hospital Infantil Universitario Niño Jesús, Madrid, España
g Unidad de Genética, Universitat Pompeu Fabra, Instituto de Investigación Hospital del Mar (IMIM), Barcelona, España
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