Abstract
This thesis is a collection of studies centering around molecular diagnostics of epidermolysis bullosa (EB), produced by a collaboration between the Departments of Dermatology and Genetics in the Centre for Blistering Diseases of the University Medical Center Groningen in Groningen, the Netherlands.
The aim of the performed studies was twofold: I) to report and explain atypical phenotypes of EB with meticulous description of the clinical phenotype, supported by functional and molecular studies. In this way we aimed to further the understanding of specific adhesion molecules involved in EB; and II) to solve the cold cases of EB patients i.e. those patients lacking a genetic diagnosis with specific focus on the largest group in the Dutch registry, (basal) epidermolysis bullosa simplex (EBS).
The aim of the performed studies was twofold: I) to report and explain atypical phenotypes of EB with meticulous description of the clinical phenotype, supported by functional and molecular studies. In this way we aimed to further the understanding of specific adhesion molecules involved in EB; and II) to solve the cold cases of EB patients i.e. those patients lacking a genetic diagnosis with specific focus on the largest group in the Dutch registry, (basal) epidermolysis bullosa simplex (EBS).
Original language | English |
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Qualification | Doctor of Philosophy |
Awarding Institution |
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Supervisors/Advisors |
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Award date | 6-Jun-2016 |
Place of Publication | [Groningen] |
Publisher | |
Print ISBNs | 978-90-367-8843-4 |
Electronic ISBNs | 978-90-367-8836-6 |
Publication status | Published - 2016 |