The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lisa LenaertsSara ReynhoutIris VerbinnenFrédéric LaumonnierAnnick ToutainFrédérique Bonnet-BrilhaultYana HoorneShelagh JossAnna K ChasseventConstance Smith-HicksBart LoeysPascal JosetKatharina SteindlAnita RauchSarju G MehtaWendy K ChungKoenraad DevriendtSusan E HolderTamison JewettLauren M BaldwinWilliam G WilsonShelley TownerSiddharth SrivastavaHannah F JohnsonCornelia Daumer-HaasMartina BaethmannAnna RuizElisabeth GabauVani JainVinod VargheseAli Al-BeshriStephen FultonOded WechsbergNaama OrensteinKatrina PrescottAnne-Marie ChildsLaurence FaivreSébastien MouttonJennifer A SullivanVandana ShashiSuzanne M KoudijsMalou HeijligersEmma KivuvaAmy McTagueAlison MaleYvette van IerlandBarbara PleckoIsabelle MaystadtRizwan HamidVickie L HannigGunnar HougeVeerle JanssensPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We significantly expand the phenotypic spectrum of PPP2R1A-related NDD, revealing a broader clinical presentation of the patients and that the functional consequences of the variants are more diverse than previously reported.