Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia

Background: ODAD3 encodes a protein of 595 amino acids and contain three highly conserved coiled-coil domains, which is essential for cilia axoneme dynein arm assembly and docking. Primary ciliary dyskinesia (PCD) of ODAD3 deficiency are rarely reported. Female infertility in PCD related to ODAD3 va...

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Detalles Bibliográficos
Autores principales: Wang, Rongchun, Yang, Danhui, Guo, Ting, Lei, Cheng, Chen, Xu, Kang, Xi, Qing, Jie, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953140/
https://www.ncbi.nlm.nih.gov/pubmed/33719352
http://dx.doi.org/10.3389/fgene.2021.652381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953140/
https://www.ncbi.nlm.nih.gov/pubmed/33719352
http://dx.doi.org/10.3389/fgene.2021.652381

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