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Author

Andrea Gřegořová

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Open access Aug 2026

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

A unique AR deletion identified in a 46,XY female patient with CAIS is described, which segregates in the large CAIS family; it was detected in five affected relatives, while the four remaining family members were asymptomatic carriers.

Júlia Martinková, Andrea Gřegořová, M. Wayhelova et al. · 0 citations
Open access Aug 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

Debora Tibbe, Christina Kiel, Olena Ielesicheva et al. · 0 citations

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