He Dong

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

Abstract 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 of...