Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Rivka BirnbaumShlomit EzerNava Shaul LotanAvital EilatKeren SternlichtLilach BenyaminiOrit ReishTzipora C Falik-ZaccaiGali Ben-GadRaya RodReeval SegelKatherine KimBarabra BurtonCatherine E KeeganMallory WagnerLindsay B HendersonNofar MorOrtal BarelYoel HirschVardiella MeinerOrly ElpelegTamar HarelHagar Mor-ShakedPublished in: Journal of medical genetics (2023)
was discovered in individuals with NDDs and short stature. This finding establishes a connection between another member of the RAS family and NDDs. Additional research is needed to uncover the specific molecular mechanisms by which SGSM3 influences neurodevelopmental processes and the regulation of growth.