P284: Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with heterotaxy syndrome

• Vittoria Rossi,
• Xi Luo,
• Kristin Cardiel Nunez,
• Ruiyang Yi,
• Elizabeth Mizerik,
• Lauren Westerfield,
• Seema Lalani,
• Mir Reza Bekheirnia

Affiliations

Vittoria Rossi

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

Xi Luo

Department of Molecular and Human Genetics, Baylor College of Medicine; Baylor Genetics, Houston, TX

Kristin Cardiel Nunez

Mayo Clinic Alix School of Medicine, Center for Clinical and Translational Sciences

Ruiyang Yi

Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital

Elizabeth Mizerik

Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital

Lauren Westerfield

Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital

Seema Lalani

Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital

Mir Reza Bekheirnia

Department of Molecular and Human Genetics, Baylor College of Medicine; Texas Children's Hospital