Diagnosis of Thrombocytopenia Absent Radius (TAR) Syndrome After Abnormal First Trimester Ultrasound: A Case Report
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Nicole Poulos, MS; Co-Author - Millie A. Ferres, MD; Co-Author - Zena Wolf, PhD; Co-Author - Christine R. Bryke, MD; Co-Author - Karen Marchand, MS; Co-Author - Paula Delerme, MS; Co-Author - Julie Howell, MS; Co-Author - Barbara O'Brien, MD;
Meta Tag
Bone/Joint Abnormalities
Congenital Anomaly
Genetic Testing
Prenatal Diagnosis
Ultrasound
Variant Detection
Co-Author Millie A. Ferres, MD
Co-Author Zena Wolf, PhD
Co-Author Christine R. Bryke, MD
Co-Author Karen Marchand, MS
Co-Author Paula Delerme, MS
Co-Author Julie Howell, MS
Co-Author Barbara O'Brien, MD
Presenting Author Nicole Poulos, MS
Keywords
Thrombocytopenia Absent Radius syndrome
autosomal recessive disorder
low platelet count
absence of radii
skeletal abnormalities
congenital heart defects
chromosomal microarray analysis
RBMA8A gene deletion
genetic diagnosis
skeletal dysplasia

© 2024 American College of Medical Genetics and Genomics. All rights reserved.

Powered By