Publication | Open Access

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Sotos SyndromeDevelopmental BiologyMendelian DisorderGenetic DisorderWeaver SyndromeGeneticsNsd1 MutationsPathologyMolecular GeneticsDisease Gene IdentificationMedicine