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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Sporadic and Inherited Genetic Variants Causing a ...
Sporadic and Inherited Genetic Variants Causing a Blended Phenotype in a Patient with Kabuki Syndrome and Loeys-Dietz Syndrome, Type 3
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Submitter Only - Kathleen A. Leppig, MD; Presenting Author - Corina A. Pierce, B.S. biology, OMSIII; Co-Author - Kathryn O. Beebe, MS; Co-Author - Elsa V. Balton, MS; Co-Author - Heidi A. Thiese, MSGC; Co-Author - Kathleen A. Leppig, MD;
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Cardiovascular System
Dysmorphology
Genetic Testing
Identification of Disease Genes
Intellectual disability
Phenotypic delineation of disorders
Co-Author
Kathryn O. Beebe, MS
Co-Author
Elsa V. Balton, MS
Co-Author
Heidi A. Thiese, MSGC
Co-Author
Kathleen A. Leppig, MD
Presenting Author
Corina A. Pierce, B.S. biology, OMSIII
Submitter Only
Kathleen A. Leppig, MD
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