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Sponsored Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt Design Multi-Agent AI Systems Using MCP and A2A: Engineer your own Pyt

Author

E. Björck

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2 papers indexed here

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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
Oct 2026

MOLECULAR AND CLINICAL FEATURES OF KYPHOSCOLIOTIC EHLERS-DANLOS SYNDROME DUE TO LYSYL HYDROXYLASE 1 DEFICIENCY.

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is caused by biallelic pathogenic variants in either PLOD1, encoding the enzyme lysyl hydroxylase 1 (LH1), which is crucial for collagen lysine hydroxylation and crosslink formation or in FKBP14, encoding the collagen chaperone FKBP22. This study aims to define the clinical...

D. Syx, M. Colman, Zoë Malfait et al. · 0 citations

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