P325: A homozygous novel pathogenic variant in SYNJ1 and its clinical presentation

• Christie Taylor,
• Mary Maj,
• Kevin Landau,
• Dong Li,
• Elizabeth Bhoj,
• Helga Toriello,
• Beverly Nelson,
• Sarah Gluschitz,
• Ruth Walker,
• Andrew Sobering

Affiliations

Christie Taylor

Augusta University/University of Georgia Athens Medical Partnership Campus of the Medical College of Georgia

Mary Maj

St. George’s University School of Medicine

Kevin Landau

St. George’s University School of Medicine

Dong Li

The Children’s Hospital of Philadelphia

Elizabeth Bhoj

The Children’s Hospital of Philadelphia

Helga Toriello

Michigan State University

Beverly Nelson

St. George’s University School of Medicine

Sarah Gluschitz

St. George’s University School of Medicine

Ruth Walker

Mount Sinai School of Medicine

Andrew Sobering

Augusta University/University of Georgia Athens Medical Partnership Campus of the Medical College of Georgia