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

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

Abstract 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 ependy...

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Bibliographic Details
Main Authors: Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
case report
FOXJ1 gene
hydrocephalus
primary ciliary dyskinesia
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.2235

Internet

https://doi.org/10.1002/mgg3.2235

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