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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	LI Yixuan, HE Miao, ZHENG Haixia, LIU Yaping
Формат:	Artigo
Хэл сонгох:	Chinês
Хэвлэсэн:	Editorial Office of Journal of Rare Diseases 2024-07-01
Цуврал:	罕见病研究
Нөхцлүүд:	primary ciliary dyskinesia exome sequencing emerging genetic testing technologies genetic diagnostic rate
Онлайн хандалт:	https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.03.015
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!