P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq

• Jian Zhao,
• Nicola Longo,
• Robert Lewis,
• Thomas Nicholas,
• Steven Boyden,
• Ashley Andrews,
• Austin Larson,
• Pinar Bayrak-Toydemir,
• Lorenzo Botto,
• Rong Mao

Affiliations

Jian Zhao

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

Nicola Longo

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

Robert Lewis

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

Thomas Nicholas

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

Steven Boyden

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

Ashley Andrews

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

Austin Larson

Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO

Pinar Bayrak-Toydemir

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