From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB)

BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited genetic disorder characterized by recurrent and chronic open wounds with significant morbidity, impaired quality of life, and early mortality. RDEB patients demonstrate reduction or structural alteration type VII collagen...

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Detalhes bibliográficos
Publicado no:Clin Cosmet Investig Dermatol
Main Authors: Eichstadt, Shaundra, Tang, Jean Y, Solis, Daniel C, Siprashvili, Zurab, Marinkovich, M Peter, Whitehead, Nedra, Schu, Matthew, Fang, Fang, Erickson, Stephen W, Ritchey, Mary E, Colao, Max, Spratt, Kaye, Shaygan, Amir, Ahn, Mark J, Sarin, Kavita Y
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2019
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935313/
https://ncbi.nlm.nih.gov/pubmed/31920360
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/CCID.S232547
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