Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

BACKGROUND: Primary ciliary dyskinesia (PCD) is a mostly autosomal recessive, genetic disease of abnormal motile cilia function, resulting in bronchiectasis, infertility, organ laterality defects, and chronic otolaryngology disease. Though motile, ependymal cilia influencing cerebrospinal fluid flow...

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Detalles Bibliográficos
Autores principales: Shapiro, Adam J., Kaspy, Kimberley, Daniels, M. Leigh Ann, Stonebraker, Jaclyn R., Nguyen, Van‐Hung, Joyal, Lyne, Knowles, Michael R., Zariwala, Maimoona A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372090/
https://www.ncbi.nlm.nih.gov/pubmed/34132502
http://dx.doi.org/10.1002/mgg3.1726

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