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Author

M. Wayhelova

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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

Novel truncating SF1 gene variant in a family with mild neurodevelopmental disorder: expanding the phenotype of SF1-related spliceosomopathy spectrum

A unique familial case of a novel truncating variant in a single Czech family presenting with mild neurodevelopmental disorders (NDD) and variable congenital abnormalities is reported, expanding the spectrum of pathogenic variants involved in the development of new SF1 -related spliceosomopathy and its diverse phenotyp...

M. Wayhelova, J. Šoukalová, Petra Lišková et al. · 0 citations

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