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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

Nathalie Boddaert

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Case report Open access Aug 2026

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.

An 11-year-old male with compound heterozygous NSMCE2 variants and a phenotype consistent with MPD exhibited a bilateral developmental maculopathy, an ocular feature not previously associated with NSMCE2 deficiency, which may broaden the phenotypic spectrum associated with NSMCE2-related MPD.

Cristina Peduto, C. Huber, C. Paya et al. · 0 citations

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