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Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.