Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus
Abstract 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 fl...
| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Wiley
2021-07-01
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| coleção: | Molecular Genetics & Genomic Medicine |
| Acesso em linha: | https://doi.org/10.1002/mgg3.1726 |