Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Silvestre CuinatChloé QuélinClaire EffrayChristèle DubourgGwenaelle Le BouarAnne-Sophie Cabaret-DufourPhilippe LogetMaia ProisyFanny SauvestreMélie SarreauSophie Martin-BerenguerClaire BeneteauSophie NaudionVincent MichaudBenoit ArveilerAurélien TrimouillePierre MacéSabine SigaudyOlga GlazunovaJulia TorrentsLaure RaymondMarie-Hélène Saint-FrisonTania Attié-BitachMathilde Becmeur-LefebvreYline CapriNicolas BourgonChristel Thauvin-RobinetFrédéric Tran Mau ThemAnge-Line BruelAntonio VitobelloAnne Sophie Denommé-PichonLaurence Olivier-FaivreAnne-Claire BrehinAlice GoldenbergSophie Patrier-SallebertAlexandre PeraniBenjamin DauriatSylvie BourthoumieuCatherine YardinValentine MarquetMarion BarniqueMaryse Fiorenza-GasqIsabelle MareyDanielle TournadreRaïa DoumitFrédérique NuguesTahsin Stefan BarakatFrancisco BustosSylvie JaillardErika LaunayLaurent PasquierSylvie OdentPublished in: Journal of medical genetics (2024)
Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.
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