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Paper Details

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
22
2020
Genitopatellar syndrome, Intestinal malrotation, KAT6B, KAT6B disorder, KAT6B disorders, KAT6B gene, KAT6B variants, Pierre Robin sequence, Say-Barber-Biesecker-Young-Simpson syndrome, cerebral anomalies, children, cystic hygroma, limb anomalies, long thumbs and great toes, neurobehavioral difficulties, optic nerve hypoplasia, polydactyly, renal anomalies, renal failure
Author NameAffiliation
Elaine H ZackaiChildren's Hospital of Philadelphia
Elaine H ZackaiPerelman School of Medicine, University of Pennsylvania
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia
Vernon R SuttonBaylor College of Medicine
Vernon R SuttonTexas Children's Hospital
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Ingrid A HolmBoston Children's Hospital, Harvard Medical School
Ingrid A HolmBoston Children's Hospital, Harvard Medical School
Marco TartagliaIRCCS
Giovanni Battista FerreroUniversity of Torino
Francesca Clementina RadioIRCCS
John C CareyUniversity of Utah Health
Jessica X ChongUniversity of Washington
Jessica X ChongBrotman-Baty Institute for Precision Medicine
Jessica X ChongUniversity of Washington
Jessica X ChongBrotman-Baty Institute for Precision Medicine
Deborah A NickersonBrotman-Baty Institute for Precision Medicine
Deborah A NickersonUniversity of Washington
Deborah A NickersonBrotman-Baty Institute for Precision Medicine
Deborah A NickersonUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadBrotman-Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington
Michael J BamshadBrotman-Baty Institute for Precision Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
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