High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1-related Joubert syndrome (JS) in three EPLs...

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Detalhes bibliográficos
Main Authors: Gjorgji Bozhinovski, Marija Terzrzikj, Katerina Kubelka-Sabit, Dijana Plaseska-Karanfilska
Formato: Artigo
Idioma:English
Publicado em: Galenos Publishing House 2024-03-01
Colecção:Balkan Medical Journal
Acesso em linha:http://balkanmedicaljournal.org/abstract.php?id=2581