Associated Papers
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
Lu W et al.
Journal of Assisted Reproduction and Genetics, 2024
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I et al.
Frontiers in Genetics, 2023
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Composition and function of the C1b/C1f region in the ciliary central apparatus.
Joachimiak E et al.
Scientific Reports, 2021
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
Liu C et al.
Journal of Medical Genetics, 2020
Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.
Sha Y et al.
Clinical Genetics, 2019
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