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

一种新型桥粒斑蛋白变异体导致婴儿单纯性大疱性表皮松解症，伴有皮肤脆弱、先天性皮肤发育不全和致心律失常性心肌病，可导致早期死亡。