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

Author

Yan-Ru Huang

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Open access Sep 2026

Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant

This case indicates that PGT-M is a viable option for NPHP3-related MKS and BRCA-positive patients to avoid transmission while maintaining their families, and successful application of PGT-M provides a potential approach for treating other monogenic diseases.

Yi-Yuan Zhang, Xian-Jing Huang, Ping-Ping Qiu et al. · 0 citations

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