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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

A. AlTurki

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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. · 0 citations

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