2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Sporadic and Inherited Genetic Variants Causing a Blended Phenotype in a Patient with Kabuki Syndrome and Loeys-Dietz Syndrome, Type 3

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