A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

BACKGROUND: Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cili...

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Detalles Bibliográficos
Autores principales: Gao, Shiyang, Zhang, Qianwen, Feng, Biyun, Gu, Shili, Li, Zhiying, Sun, Lianping, Yao, Ru‐en, Yu, Tingting, Ding, Yu, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496049/
https://www.ncbi.nlm.nih.gov/pubmed/37469238
http://dx.doi.org/10.1002/mgg3.2235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496049/
https://www.ncbi.nlm.nih.gov/pubmed/37469238
http://dx.doi.org/10.1002/mgg3.2235

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