Compound Heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with Heterotaxy Syndrome
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Presenting Author - Vittoria Rossi, MD; Co-Author - Xi Luo, PhD; Co-Author - Kristin Cardiel Nunez, BS; Co-Author - Ruiyang Yi, MD; Co-Author - Elizabeth A. Mizerik, MS, CGC; Co-Author - Lauren E. Westerfield, MS, CGC; Co-Author - Seema Lalani, MD; Co-Author - Mir Reza Bekheirnia, MD, FACMG;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Clinical Cytogenetics
Congenital Anomaly
Exome sequencing
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Identification of Disease Genes
Prenatal Diagnosis
Co-Author Xi Luo, PhD
Co-Author Kristin Cardiel Nunez, BS
Co-Author Ruiyang Yi, MD
Co-Author Elizabeth A. Mizerik, MS, CGC
Co-Author Lauren E. Westerfield, MS, CGC
Co-Author Seema Lalani, MD
Co-Author Mir Reza Bekheirnia, MD, FACMG
Presenting Author Vittoria Rossi, MD
Keywords
heterotaxy syndrome
embryonic development
prenatal genetic testing
fetal echocardiogram
molecular diagnosis
GDF1 gene
Trio Whole Exome Sequencing
phenotypic spectrum
mutational profile
genetic testing

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