Sporadic and Inherited Genetic Variants Causing a Blended Phenotype in a Patient with Kabuki Syndrome and Loeys-Dietz Syndrome, Type 3
Back to course
Pdf Summary
Asset Subtitle
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;
Meta Tag
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

© 2025 American College of Medical Genetics and Genomics. All rights reserved.

Powered By