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Full-Text Articles in Medicine and Health Sciences
From Clinical Phenotype To Genotypic Modelling: Incidence And Prevalence Of Recessive Dystrophic Epidermolysis Bullosa (Rdeb), Shaundra Eichstadt, Jean Y. Tang, Daniel C. Solis, M. Peter Marinkovich, Nedra Whitehead, Fang Fang, Stephen W. Erickson, Mary E. Ritchey, Max Colao, Kaye Spratt, Amir Shaygan, Mark Ahn, Kavita Y. Sarin
From Clinical Phenotype To Genotypic Modelling: Incidence And Prevalence Of Recessive Dystrophic Epidermolysis Bullosa (Rdeb), Shaundra Eichstadt, Jean Y. Tang, Daniel C. Solis, M. Peter Marinkovich, Nedra Whitehead, Fang Fang, Stephen W. Erickson, Mary E. Ritchey, Max Colao, Kaye Spratt, Amir Shaygan, Mark Ahn, Kavita Y. Sarin
Engineering and Technology Management Faculty Publications and Presentations
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 (C7) owing to mutations in the gene COL7A1, the main component of anchoring fibrils (AF) necessary to maintain epidermal-dermal cohesion. While over 700 alterations in COL7A1 have been reported to cause dystrophic epidermolysis bullosa (DEB), which may be inherited in an autosomal dominant (DDEB) or autosomal recessive pattern (RDEB), the incidence and prevalence of RDEB is not well defined. To date, the …