Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Li Xin ZhangGabrielle LemireClaudia Gonzaga-JaureguiSirinart MolidpereeCarolina Galaz-MontoyaDavid S LiuAlain VerloesAmelle G ShillingtonKosuke IzumiAlyssa L RitterBeth KeenaElaine ZackaiDong LiElizabeth BhojJennifer M TarpinianEmma BedoukianMary K KukolichA Micheil InnesGrace U EdiaeSarah L SawyerKarippoth Mohandas NairPara Chottil SoumyaKinattinkara R SubbaramanFrank J ProbstJennifer A BassettiReid V SuttonRichard A GibbsChester BrownPhilip M BooneIngrid A HolmMarco TartagliaGiovanni Battista FerreroMarcello NicetaMaria Lisa DenticiFrancesca Clementina RadioBoris KerenConstance F WellsChristine CoubesAnnie LaquerrièreJacqueline AzizaCharlotte DubucsSheela NampoothiriDavid MowatMillan S PatelAna BrachoFrancisco Cammarata-ScalisiAlper GezdiriciAlberto Fernandez-JaenNatalie HauserYuri A ZarateKatherine A BosankoKlaus DieterichJohn C CareyJessica X ChongDeborah A NickersonMichael J BamshadBrendan H LeeXiang-Jiao YangJames R LupskiPhilippe M CampeauPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our work provides a comprehensive review and expansion of the genotypic and phenotypic spectrum of KAT6B disorders that will assist clinicians in the assessment, counseling, and management of affected individuals.