Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay
ABSTRACT Background The Embryonic Ectoderm Development (EED) gene encodes a core component of the Polycomb Repressive Complex 2 (PRC2), which regulates chromatin structure and plays a key role in embryonic development and cell differentiation. Pathogenic variants in EED are associated with overgrowth–intellectual disab...