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Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a group of genetically and clinically heterogeneous disorders with motile cilia dysfunction. It is clinically characterized by oto‐sino‐pulmonary diseases and subfertility, and half of the patients have situs inversus (Kartagener syndrome). To identify the genetic...

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Detalles Bibliográficos
Autores principales: Xiong, Ying, Xia, Hong, Yuan, Lamei, Deng, Sheng, Ding, Zerui, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435457/
https://www.ncbi.nlm.nih.gov/pubmed/34405951
http://dx.doi.org/10.1111/jcmm.16866