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Genetics in Medicine Open
(Jan 2023)
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
Journal volume & issue
Vol. 1, no. 1
p. 100641
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