Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense ThomasTom AlixÉmeline RenardMathilde RenaudJustine WourmsStéphane ZuilyBruno LeheupDavid GenevièveNatacha DreumontEmmanuelle SchmittMyriam BronnerMarc MullerMarion DivouxMarion WandzelJean-Marie RavelMylène DexheimerAurélie BeckerVirginie RothMarjolaine WillemsChristine CoubesGaëlle VievilleFrançoise DevillardÉlise SchaeferSarah BaerAmelie PitonBénédicte GérardMarie VincentMathilde NizonBenjamin CognéLyse RuaudNathalie CouqueAudrey PutouxPatrick EderyGaëtan LescaNicolas ChatronMarianne TillLaurence Olivier-FaivreFrédéric Tran-Mau-ThemJean-Luc AlessandriMarine LebrunChloé QuélinSylvie OdentChristèle DubourgVéronique DavidMarie FaoucherCyril MignotBoris KerenÉlise PisanAlexandra AfenjarSophie JuliaÉric BiethGuillaume BanneauAlice GoldenbergThomas HussonDominique CampionFrancois LecoquierreGaël NicolasCamille CharbonnierAnne De Saint MartinSophie NaudionManon DegoutinSophie RondeauCaroline MichotValérie Cormier-DaireAbderrahim OussalahCarine PouriéLaëtitia LambertCéline BonnetPublished in: Journal of medical genetics (2024)
This study of a nationwide cohort of individuals with TBRS confirms previously published data and provides additional information and clarifies clinical features to facilitate diagnosis and improve care. This study adds value to the growing body of knowledge on TBRS and broadens its clinical and molecular spectrum.
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