P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications

• David D'Onofrio,
• Andrea Cohen,
• Meredith Gillis,
• Seth Berger,
• May Christine Malicdan,
• William Gahl,
• David Adams,
• Camilo Toro,
• Thomas Cassini

Affiliations

David D'Onofrio

NIH Undiagnosed Diseases Program, Intramural Research Program, NHGRI, NIH, Bethesda, MD

Andrea Cohen

Office of Clinical Director, NHGRI, NIH, Bethesda, MD

Meredith Gillis

Human Biochemical Genetics Section, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD

Seth Berger

Center for Genetic Medicine Research, Children’s National Hospital, Washington, DC

May Christine Malicdan

NIH Undiagnosed Diseases Program, Intramural Research Program, NHGRI, NIH, Bethesda, MD

William Gahl

NIH Undiagnosed Diseases Program, Intramural Research Program, NHGRI, NIH, Bethesda, MD

David Adams

NIH Undiagnosed Diseases Program, Intramural Research Program, NHGRI, NIH, Bethesda, MD

Camilo Toro

NIH Undiagnosed Diseases Program, Intramural Research Program, NHGRI, NIH, Bethesda, MD

Thomas Cassini

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN