P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay

• Lei Zhang,
• Janda Jenkins,
• Jennifer Roberts,
• Elena Repnikova,
• Shivarajan Amudhavalli,
• Marla Kennard,
• Mary Champion,
• John Herriges

Affiliations

Lei Zhang

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO

Janda Jenkins

Division of Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO

Jennifer Roberts

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO

Elena Repnikova

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO

Shivarajan Amudhavalli

Division of Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO

Marla Kennard

Children's Mercy Hospital

Mary Champion

Children's Mercy Hospital

John Herriges

Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO