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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935313/
https://www.ncbi.nlm.nih.gov/pubmed/31920360
http://dx.doi.org/10.2147/CCID.S232547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935313/
https://www.ncbi.nlm.nih.gov/pubmed/31920360
http://dx.doi.org/10.2147/CCID.S232547

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