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Author

Lama S Almohlesy

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Case report Aug 2026

Paternal Transmission of Angelman Syndrome via a Mosaic sSMC(15): A Rare Case of Germline Epigenetic Reset Failure and Somatic Rescue.

A pedigree in which a neurotypical father transmitted AS to multiple offspring via a structural mechanism distinct from UPD is reported, highlighting the role of sSMCs in masking pathogenic deletions and underscores the diagnostic importance of high-resolution genomic mapping in cases of atypical imprinting transmission.

Mohammed Alraddadi, Lama S Almohlesy, Areej Ashour et al. · 0 citations

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