The Expanding Genetic Diagnostic Approaches for Patients with Primary Ciliary Dyskinesia Beyond the Exome

Primary ciliary dyskinesia (PCD) is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia. It is typically inherited in an autosomal recessive pattern. The disease affects multiple organs, and the variability in clinical phenotypes, along with ge...

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Autors principals:	LI Yixuan, HE Miao, ZHENG Haixia, LIU Yaping
Format:	Artigo
Idioma:	Chinês
Publicat:	Editorial Office of Journal of Rare Diseases 2024-07-01
Col·lecció:	罕见病研究
Matèries:	primary ciliary dyskinesia exome sequencing emerging genetic testing technologies genetic diagnostic rate
Accés en línia:	https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.03.015
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