A 3.9 Mb Triplication Within 11p14.1p13 Containing ELP4 and PAX6 In a Patient With Congenital Nystagmus and Mild Speech Delay
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Presenting Author - Lei Zhang, PhD; Co-Author - Janda Jenkins, MS, CGC; Co-Author - Jennifer Roberts, MS; Co-Author - Elena A. Repnikova, PhD; Co-Author - Shivarajan M. Amudhavalli, MD; Co-Author - Marla Kennard, OD; Co-Author - Mary Champion, MD; Co-Author - John Herriges, PhD;
Meta Tag
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Microarray
Co-Author Janda Jenkins, MS, CGC
Co-Author Jennifer Roberts, MS
Co-Author Elena A. Repnikova, PhD
Co-Author Shivarajan M. Amudhavalli, MD
Co-Author Marla Kennard, OD
Co-Author Mary Champion, MD
Co-Author John Herriges, PhD
Presenting Author Lei Zhang, PhD
Keywords
congenital nystagmus
mild speech delay
triplication
11p14.1p13
ELP4
PAX6
aniridia
retinal pigmentation
myopia
language delay

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