High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
Gjorgji Bozhinovski,
Marija Terzikj,
Katerina Kubelka-Sabit
et al.
Abstract: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 from two couples and identified a relatively common
CPLANE1
allele among our population (NM_001384732.1:c.1819delT;c.7817T>A, further after referre… Show more
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