Article
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Archivos de bronconeumologia - 1 Mar 2021
Baz-Redón Noelia, Rovira-Amigo Sandra, Paramonov Ida, Castillo-Corullón Silvia, Cols Roig Maria, Antolín María, García Arumí Elena, Torrent-Vernetta Alba, de Mir Messa Inés, Gartner Silvia, Iglesias Serrano Ignacio, Caballero-Rabasco M Araceli, Asensio de la Cruz Óscar, Vizmanos-Lamotte Gerardo, Martín de Vicente Carlos, Martínez-Colls María Del Mar, Reula Ana, Escribano Amparo, Dasí Francisco, Armengot-Carceller Miguel, Polverino Eva, Amengual Pieras Esther, Amaro-Rodríguez Rosanel, Garrido-Pontnou Marta, Tizzano Eduardo, Camats-Tarruella Núria, Fernández-Cancio Mónica, Moreno-Galdó Antonio
Abstract excerpt
INTRODUCTION: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. METHODS: This...
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