De Novo GATA4 deletion in a 46,XX Boy with Hypospadias and Pulmonic Valve Stenosis
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Presenting Author - Eyby Leon, MD; Co-Author - Veronica Gomez-Lobo, MD; Co-Author - Kim Shimy, MD; Co-Author - Maureen Monaghan, PhD; Co-Author - Eric J. Vilain, MD, PhD; Co-Author - Daniel Casella, MD; Co-Author - Emmanuele Delot, PhD;
Meta Tag
array CGH
Cardiac/circulatory disorders
Congenital Anomaly
Delineation of Diseases
Etiology
Genitourinary malformations
Identification of Disease Genes
Phenotype
Prenatal Diagnosis
Co-Author Veronica Gomez-Lobo, MD
Co-Author Kim Shimy, MD
Co-Author Maureen Monaghan, PhD
Co-Author Eric J. Vilain, MD, PhD
Co-Author Daniel Casella, MD
Co-Author Emmanuele Delot, PhD
Presenting Author Eyby Leon, MD
Keywords
infant
atypical male genitalia
pulmonic valve stenosis
46,XX chromosome complement
GATA4 deletion
sex development
hypospadias
cardiac abnormalities
valvuloplasty
genetic testing

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