TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Barbara OgórekLana HamiehHanna M HulshofKathryn LasseterKatarzyna KlonowskaHugo KuijfRomina MoaveroChristoph HertzbergBernhard WeschkeKate RineyMartha FeuchtTheresa SchollPavel KrsekRima NabboutAnna C JansenBarbora BenovaEleonora AronicaLieven LagaePaolo CuratoloJulita BorkowskaKrzysztof SadowskiDorota Domańska-PakiełaStef JansonPiotr KozlowskiMalgorzata UrbanskaJacek JaworskiSergiusz JozwiakFloor E JansenKatarzyna Kotulskanull nullDavid J KwiatkowskiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
TSC2 pathogenic variants are associated with a more severe clinical phenotype than mosaic TSC2 or TSC1 variants in TSC infants. Early assessment of gene variant status and mosaicism might have benefit for clinical management in infants and young children with TSC.