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Start Over Descriptor "Epidermolysis Bullosa Simplex etiology" Topic cardiomyopathies

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1 results on '"Epidermolysis Bullosa Simplex etiology"'

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

Author

Camors EM, Purevjav E, Jefferies JL, Saffitz JE, Gong N, Ryan TD, Lucky AW, Taylor MD, Sullivan LM, Mestroni L, and Towbin JA

Subjects
Cardiomyopathies etiology, Ectodermal Dysplasia etiology, Epidermolysis Bullosa Simplex etiology, Fatal Outcome, Female, Humans, Infant, Male, Pedigree, Cardiomyopathies pathology, Desmoplakins genetics, Ectodermal Dysplasia pathology, Epidermolysis Bullosa Simplex pathology, Mutation
Published
2020
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