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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

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Karl De Geer

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Open access Oct 2026

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function.

PAX6 encodes a dosage-sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality. Here we report the first adult patient with...

Karl De Geer, B. Anderlid, L. Jacobson et al. · 0 citations

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