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A Novel Compound Heterozygous Mutation in the DNAH11 Gene Found in Neonatal Twins With Primary Ciliary Dyskinesis
Background: Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder of motile cilia. Common features of PCD include upper and lower respiratory tract disease, secretory otitis media, situs inversus and fertility problems. To date, although several PCD-associated genes have been...
Autores principales: | Dong, Shumei, Bei, Fei, Yu, Tingting, Sun, Luming, Chen, Xiafang, Yan, Hui |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8919259/ https://www.ncbi.nlm.nih.gov/pubmed/35295944 http://dx.doi.org/10.3389/fgene.2022.814511 |
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