Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Abdellah TebaniBénédicte Sudrié-ArnaudIvana DabajStéphanie TorreLaur DomitilleSarah SnanoudjBenedicte HeronThierry LevadeCatherine CaillaudSabrina VergnaudPascale Saugier-VeberSophie CoutantHélène DranguetRoseline FroissartMajed Al KhouriYves AlembikJulien BaruteauJean-Baptiste ArnouxAnais BrassierAnne-Claire BrehinTiffany BusaAline CanoBrigitte ChabrolChristine CoubesIsabelle DesguerreMartine Doco-FenzyBernard DrenouNursel H ElciogluSolaf ElsayedAlain FouilhouxCéline PoirsierAlice GoldenbergPhilippe JouvencelAlice KusterFrançois LabartheLeila LazaroSamia PichardSerge RiveraSandrine RocheStéphanie RoggeroneAgathe RoubertieSabine SigaudyMarta SpodenkiewiczMarine TardieuCatherine VanhulleStéphane MarretSoumeya BekriPublished in: Journal of medical genetics (2021)
This study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management.