Substantiating atypical phenotypes of epidermolysis bullosa

Gostynska, K. B., 2016, [Groningen]: Rijksuniversiteit Groningen. 138 p.

Research output: ThesisThesis fully internal (DIV)Academic

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  • Title and contents

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  • Chapter 1

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  • Chapter 2

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  • Chapter 3

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  • Chapter 4

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  • Chapter 5

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  • Chapter 6

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  • Chapter 7

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  • Chapter 8

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  • Chapter 9

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  • Appendices

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  • Complete thesis

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  • Propositions

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  • Katarzyna Barbara Gostynska
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).
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • Jonkman, Marcellinus, Supervisor
  • Sinke, Richard, Supervisor
  • Pasmooij, Marjon, Co-supervisor
  • Has, C., Assessment committee, External person
  • Steijlen, P. M., Assessment committee, External person
  • Sijmons, Rolf, Assessment committee
Award date6-Jun-2016
Place of Publication[Groningen]
Print ISBNs978-90-367-8843-4
Electronic ISBNs978-90-367-8836-6
Publication statusPublished - 2016

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