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Open access Oct 2026

Advanced Maternal Age and Risk of Large-for-Gestational-Age Infants: Mediating Roles of Prenatal Body Mass Index and Specific Lipid Profiles

Background Advanced maternal age (AMA) is associated with adverse pregnancy outcomes, but the mechanisms linking AMA to fetal overgrowth remain poorly quantified. This retrospective cohort study aimed to estimate the potential statistical mediating roles of prenatal BMI and blood lipids in the association between AMA a...

Bin Zhang, Qi Yan, Zhao-Long Zhan et al. · 0 citations
Review Open access Oct 2026

A novel ATP7A splice‑site variant with suspected maternal gonadal mosaicism in Menkes disease: functional validation and prenatal diagnosis

Menkes disease (MIM#309400) is a rare, fatal X-linked neurodegenerative disorder caused by ATP7A mutations. Delayed diagnosis due to clinical heterogeneity and limited data on mutational spectrum and reproductive risk remain challenges, with gonadal mosaicism being an often underestimated cause of disease recurrence....

Feng-Ying Lu, He Dong, Feng Zhang et al. · 0 citations

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