Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.

Autor: Brión M; From the Grupo de Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular, Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain maria.brion@usc.es., de Castro López MJ; Department of Pediatrics., Santori M; From the Grupo de Xenética de Enfermidades Cardiovasculares, Instituto de Investigación Sanitaria de Santiago, Red de Investigación Cardiovascular, Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain., Pérez Muñuzuri A; Neonatal Unit, Department of Pediatrics., López Abel B; Pediatric Cardiac Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Baña Souto AM; Neonatal Unit, Department of Pediatrics., Martínez Soto MI; Pediatric Cardiac Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., Couce ML; Neonatal Unit, Department of Pediatrics.

Publikováno v: American journal of clinical pathology [Am J Clin Pathol] 2016 Apr; Vol. 145 (4), pp. 507-13. Date of Electronic Publication: 2016 Apr 22.