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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Julián Nevado

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Open access Aug 2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

It is confirmed that male survival is possible with both mosaic and non‐mosaic PORCN variants and the role of residual protein function in clinical variability is highlighted, with important implications for diagnosis, genetic counseling, and management in families with apparently unaffected carrier mothers.

Lucía Miranda-Alcaraz, Simone Carbonera, M. Mora-Gómez et al. · 0 citations

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