Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Henri MargotGuilaine BoursierClaire DuflosElodie SanchezJeanne AmielJean-Christophe AndrauStéphanie ArpinElise Brischoux-BoucherOdile BouteLydie BurglenCharlotte CailleYline CapriPatrick CollignonSolène ConradValérie Cormier-DaireGeoffroy DelplancqKlaus DieterichHélène DollfusMélanie FradinLaurence FaivreHelder FernandesChristine FrancannetVincent GatinoisMarion GerardAlice GoldenbergJamal GhoumidSarah GrottoAnne-Marie GuerrotAgnès GuichetBertrand IsidorMarie-Line JacquemontSophie JuliaPhilippe Khau Van KienMarine LegendreK H Le Quan SangBruno LeheupStanislas LyonnetVirginie MagrySylvie ManouvrierDominique MartinGodelieve MorelArnold MunnichSophie NaudionSylvie OdentLaurence PerrinFlorence PetitNicole PhilipMarlène RioJulie RobbeMassimiliano RossiElisabeth SarrazinAnnick ToutainJulien Van GilsGabriella VeraAlain VerloesSacha WeberSandra WhalenDamien SanlavilleDidier LacombeNathalie AladjidiDavid GenevièvePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The high prevalence of immunopathological manifestations in KS demonstrates the importance of systematic screening and efficient preventive management of these treatable and sometimes life-threatening conditions.
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