Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus

Introduction: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease characterized by structural or functional motile cilia abnormalities. Up to 40 different genes seem, at the moment, to be involved in the pathogenesis of PCD. A number of ultrastructural defects have also been repor...

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Publicat a:Front Genet
Autors principals: Cannarella, Rossella, Maniscalchi, Eugenia Tiziana, Condorelli, Rosita Angela, Scalia, Marina, Guerri, Giulia, La Vignera, Sandro, Bertelli, Matteo, Calogero, Aldo Eugenio
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7483550/
https://ncbi.nlm.nih.gov/pubmed/33005176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00974
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