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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

E. Hordyjewska-Kowalczyk

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Open access Jul 2026

Pyle disease - Functional validation of disease-causing missense variants in SFRP4/sFRP4.

An adult woman with clinical and radiographic features of Pyle disease including wide metaphyses (Erlenmeyer-flask deformity), cortical thinning and multiple fractures is described, which highlights the critical role of the WNT-binding domain of sFRP4 to act as a WNT signaling inhibitor.

Lex Magnus, E. Hordyjewska-Kowalczyk, Anna Sowińska-Seidler et al. · 0 citations

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