Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families

Background : Primary ciliary dyskinesia (PCD) is a rare genetic disorder, predominantly autosomal recessive. The dynein axonemal assembly factor 4 (DNAAF4) is mainly involved in the preassembly of multisubunit dynein protein, which is fundamental to the proper functioning of cilia and flagella. Ther...

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Detalles Bibliográficos
Autores principales: Guo, Ting, Lu, Chenyang, Yang, Danhui, Lei, Cheng, Liu, Ying, Xu, Yingjie, Yang, Binyi, Wang, Rongchun, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315306/
https://www.ncbi.nlm.nih.gov/pubmed/35903363
http://dx.doi.org/10.3389/fgene.2022.934920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315306/
https://www.ncbi.nlm.nih.gov/pubmed/35903363
http://dx.doi.org/10.3389/fgene.2022.934920

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