Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia

Affiliations

• ¹ Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
• ² Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
• ³ Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
• ⁴ AP-HP, Service de Pneumologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France.
• ⁵ Faculté de Médecine, Université de Paris Cité, Paris, France.
• ⁶ INSERM U1151, Institut Necker Enfants Malades-INEM, Paris, France.
• ⁷ Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
• ⁸ Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.