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（2020）
关键词
cardiomyopathy,desmoplakins,epidermolysis bullosa simplex,glycogen synthase kinase 3 beta,heart rate
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