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, Enkhsaikhan Purevjav, John L Jefferies, Jeffrey E Saffitz, Nan Gong, Thomas D Ryan, Anne W Lucky, Michael D Taylor, Lisa M Sullivan, Luisa Mestroni, Jeffrey A Towbin
Journal	Circulation. Genomic and precision medicine (Circ Genom Precis Med) Vol. 13 Issue 2 Pg. e002800 (04 2020) ISSN: 2574-8300 [Electronic] United States
PMID	32164419 (Publication Type: Case Reports, Letter, Research Support, N.I.H., Extramural)
Chemical References	DSP protein, human Desmoplakins
Topics	Cardiomyopathies (etiology, pathology) Desmoplakins (genetics) Ectodermal Dysplasia (etiology, pathology) Epidermolysis Bullosa Simplex (etiology, pathology) Fatal Outcome Female Humans Infant Male Mutation Pedigree

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