Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a disease caused by impaired function of motile cilia. PCD mainly affects the lungs and reproductive organs. Inheritance is autosomal recessive and X-linked. PCD patients have diverse clinical manifestations, thus making the establishment of proper diagnosis chall...

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Detalles Bibliográficos
Autores principales: Stevanovic, Nina, Skakic, Anita, Minic, Predrag, Sovtic, Aleksandar, Stojiljkovic, Maja, Pavlovic, Sonja, Andjelkovic, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396207/
https://www.ncbi.nlm.nih.gov/pubmed/34445527
http://dx.doi.org/10.3390/ijms22168821

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