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GlossaryJunctional Epidermolysis Bullosa (JEB)

genetic disorder causing fragile skin that blisters easily

Junctional Epidermolysis Bullosa (JEB) is a rare genetic disorder characterized by fragile skin that blisters easily, often in response to minor trauma or friction. This condition is caused by mutations in genes responsible for producing proteins that help anchor the outer layer of the skin (epidermis) to the underlying layer (dermis), leading to separation and blister formation at the junction between these layers.

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research Neurosensory Ecology in the Journal of Experimental Biology

1 citations , May 2008 in “Journal of Experimental Biology”

Different species have unique sensory adaptations to perceive their environments.

research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa

5 citations , April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A new therapy for a skin blistering condition has not been developed yet.

research Focal Palmoplantar Callosities in Non-Herlitz Junctional Epidermolysis Bullosa

5 citations , February 2005 in “Journal of the American Academy of Dermatology”

Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.

research Case of Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutation

1 citations , January 2015 in “The Journal of Dermatology”

Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.

research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa

October 2023 in “Pediatric dermatology”

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

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