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

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Hui-Li Xue

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Review Open access Sep 2026

Prenatal and Postnatal Identification of Phelan–McDermid Syndrome in a Tertiary Referral Center: A 15-Case Series and Literature Review

Objectives: To characterize the clinical and genetic features of Phelan–McDermid syndrome (PMS) in a Chinese prenatal and postnatal cohort, explore genotype–phenotype correlations, and provide evidence to support prenatal genetic counseling. Methods: G-banded karyotyping, single-nucleotide polymorphism arrays (SNP arra...

Hui-Li Xue, Yi-Fang Dai, Xiang-Lan Ye et al. · 0 citations

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