Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia

Clin Genet. 2023 May;103(5):612-614. doi: 10.1111/cge.14284. Epub 2023 Jan 10.

Guillaume Martinez^{1

2}, Catherine Metzler-Guillemain^{3

4}, Caroline Cazin^{2

5}, Zine-Eddine Kherraf^{2

5}, Odile Paulmyer-Lacroix^{3

6}, Christophe Arnoult², Pierre F Ray^{2

5}, Charles Coutton^{1

2}

¹ Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.
² INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, University of Grenoble Alpes, Grenoble, France.
³ Assistance-Publique des Hôpitaux de Marseille (AP-HM), Pôle Femmes-Parents-Enfants, Centre Clinico-biologique AMP-CECOS, Marseille, France.
⁴ INSERM, MMG, UMR 1251, Aix Marseille University, Marseille, France.
⁵ CHU Grenoble Alpes, UM GI-DPI, Grenoble, France.
⁶ Department of Histology Embryology, Aix Marseille University, Marseille, France.

No abstract available

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