P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation

• Youjin Oh,
• Grace Yoon,
• Michael Maier,
• Bruno Reversade,
• Jessie Cameron,
• Susan Blaser,
• Cynthia Hawkins

Affiliations

Youjin Oh

The Hospital for Sick Children

Grace Yoon

The Hospital for Sick Children

Michael Maier

Laboratory of Human Genetics & Therapeutics

Bruno Reversade

National University of Singapore

Jessie Cameron

The Hospital for Sick Children

Susan Blaser

The Hospital for Sick Children

Cynthia Hawkins

The Hospital for Sick Children