Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model

BACKGROUND: Primary ciliary dyskinesia (PCD) is a clinically heterogeneous group of autosomal or, less frequently, X-chromosomal recessive inheritance syndrome of motile cilia dysfunction characterized by neonatal respiratory distress, oto-sino-pulmonary disease, infertility and situs inversus. Rece...

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Detalles Bibliográficos
Autores principales: Li, Lulu, Shi, Guocheng, Zhang, Xingyu, Wang, Teng, Wang, Bo, Gao, Yunqian, You, Guoling, Fu, Qihua, Xiang, Ying, Zhang, Xiaoqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485651/
https://www.ncbi.nlm.nih.gov/pubmed/37692537
http://dx.doi.org/10.21037/tp-23-27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485651/
https://www.ncbi.nlm.nih.gov/pubmed/37692537
http://dx.doi.org/10.21037/tp-23-27

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