P784: Novel de novo KAT6A variant in a pediatric patient with multisystem involvement

• Chaofan Zhang,
• John O'Shea,
• Erin Baldwin,
• Ashley Andrews,
• Steven Boyden,
• Thomas Nicholas,
• Lorenzo Botto,
• Rong Mao,
• Pinar Bayrak-Toydemir

Affiliations

Chaofan Zhang

Department of Pathology, University of Utah, Salt Lake City, UT, ARUP Laboratories, Salt Lake City, UT

John O'Shea

Department of Pathology, University of Utah, Salt Lake City, UT, ARUP Laboratories, Salt Lake City, UT

Erin Baldwin

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Ashley Andrews

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Steven Boyden

Utah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT

Thomas Nicholas

Utah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT

Lorenzo Botto

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT

Rong Mao

Department of Pathology, University of Utah, Salt Lake City, UT, ARUP Laboratories, Salt Lake City, UT

Pinar Bayrak-Toydemir

Department of Pathology, University of Utah, Salt Lake City, UT, ARUP Laboratories, Salt Lake City, UT