Open access
Jul 2026
Damaging RBM20 E-rich domain variants are not rescued by gene replacement
Fang Bai, Kaiser Chua, Daniel Y. Li et al.
· bioRxiv · 0 citations
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Open access
Jul 2026
Homozygous Nonsense DSP Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings
A novel homozygous nonsense variant in the transcript 1-specific region of DSP causing Carvajal syndrome is described, characterized by severe biventricular ACM, epidermolytic palmoplantar keratoderma, and woolly hair, in a consanguineous Arabian family with four affected sisters.
Dalal A. Al-Mutairi, Mustafa Alqbandi, A. AlTurki et al.
· Journal of Clinical Medicine · 0 citations