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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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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 |