Associated Papers
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
Qin Y et al.
Bmc Genomics, 2025
FOXJ1 Variants Causing Primary Ciliary Dyskinesia with Hydrocephalus: A Case Report from Japan.
Ito M et al.
Internal Medicine (tokyo, Japan), 2024
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.
Gao S et al.
Molecular Genetics & Genomic Medicine, 2023
Novel dominant-negative FOXJ1 mutation in a family with heterotaxy plus mouse model.
Li L et al.
Translational Pediatrics, 2023
Congenital heart defects caused by FOXJ1.
Padua MB et al.
Human Molecular Genetics, 2023
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Shapiro AJ et al.
Molecular Genetics & Genomic Medicine, 2021
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Wallmeier J et al.
American Journal of Human Genetics, 2019
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