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

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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Bibliographic Details
Main Authors: Rossella Cannarella, Eugenia Tiziana Maniscalchi, Rosita Angela Condorelli, Marina Scalia, Giulia Guerri, Sandro La Vignera, Matteo Bertelli, Aldo Eugenio Calogero
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
primary ciliary dyskinesia
Kartagener syndrome
CCDC39
CCDC151
situs inversus
asthenozoospermia
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00974/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00974/full

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