Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex with Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy

Authors

• Emmanuel M. Camors, University of Tennessee Health Science Center
• Enkhsaikhan Purevjav, University of Tennessee Health Science Center
• John L. Jefferies, University of Tennessee Health Science Center
• Jeffrey E. Saffitz, Beth Israel Deaconess Medical Center
• Nan Gong, University of Tennessee Health Science Center
• Thomas D. Ryan, University of Tennessee Health Science Center
• Anne W. Lucky, Cincinnati Children's Hospital Medical Center
• Michael D. Taylor, University of Tennessee Health Science Center
• Lisa M. Sullivan, University of Mississippi School of Medicine
• Luisa Mestroni, University of Colorado Anschutz Medical Campus
• Jeffrey A. Towbin, University of Tennessee Health Science Center

Publication Title

Circulation Genomic and Precision Medicine

Recommended Citation

Camors, E., Purevjav, E., Jefferies, J., Saffitz, J., Gong, N., Ryan, T., Lucky, A., Taylor, M., Sullivan, L., Mestroni, L., & Towbin, J. (2020). Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex with Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy. Circulation Genomic and Precision Medicine, 13 (4), E002800. https://doi.org/10.1161/CIRCGEN.119.002800