New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Anaïs BegemannHeinrich StichtAmber BegtrupAntonio VitobelloLaurence FaivreSiddharth BankaBader AlhaddadReza AsadollahiJessica BeckerTatjana BierhalsKathleen E BrownAnge-Line BruelTheresa BrunetMaryline CarneiroKirsten CremerRobert DayAnne-Sophie Denommé-PichonDave A DymentHartmut EngelsRachel FisherElaine S GohM J HajianpourLucia Ribeiro Machado HaertelNadine HauerMaja HempelTheresia HergetJessika JohannsenCornelia KrausGwenaël Le GuyaderGaetan LescaFrédéric Tran Mau-ThemJohn Henry McDermottKirsty McWalterPierre MeyerKatrin ÕunapBernt PoppTiia ReimandKorbinian M RiedhammerMartina RussoLynette G SadleirMargarita SaenzManuel SchiffElisabeth SchulerSteffen SyrbeAmelie Theresa Van der VenAlain VerloesMarjolaine WillemsChristiane ZweierKatharina SteindlMarkus ZweierAnita RauchPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our study expands the clinical and molecular spectrum of CYFIP2-related neurodevelopmental disorder and provides evidence for aberrant WRC-mediated actin dynamics as contributing cellular pathomechanism.
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