P324: Ocular findings as the most striking manifestation of a SMAD3 variant

• Noémie Villeneuve-Cloutier,
• Christie Boswell-Patterson,
• Josée Martineau,
• Krista Vincent,
• Andrea Yu,
• Gail Graham,
• Julie Richer

Affiliations

Noémie Villeneuve-Cloutier

University of Ottawa, Department of Medical Genetics, CHEO

Christie Boswell-Patterson

Children's Hospital of Eastern Ontario Research Institute

Josée Martineau

I See Optometry Clinic

Krista Vincent

Department of Medical Genetics, CHEO

Andrea Yu

Division of Metabolics and Newborn Screening, Department of Pediatrics, CHEO; Children's Hospital of Eastern Ontario Research Institute

Gail Graham

Department of Medical Genetics, CHEO, Department of Paediatrics, University of Ottawa

Julie Richer

Department of Medical Genetics, CHEO; Children's Hospital of Eastern Ontario Research Institute