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Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

Jung-Hsiu Hou

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Case report Open access Sep 2026

Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome.

OBJECTIVE Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disorder caused by TP63 variants. De novo mutations challenge preimplantation genetic testing for monogenic disorders (PGT-M) when informative relatives are unavailable. This report describes a proband-independent PGT-M wor...

Yung-Chen Chien, Ping-Lun Lin, Yu-Chio Wang et al. · 0 citations

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