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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Dove 2019
Teme:
Original Research
Online dostop: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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