Clinical and genetic aspects of pseudoxanthoma elasticum

Thesis

Front cover

Title pages

Contents

Chapter 1: Introduction

Chapter 2: Does autosomal dominant pseudoxanthoma elasticum exist?

Chapter 3: Pseudoxanthoma elasticum : wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6

Chapter 4: Proposal for updating the pseudoxanthoma elasticum classification system

Chapter 5: Mutations in ABCC6 cause pseudoxanthoma elasticum

Chapter 6: ABCC6/MRP6 mutations : further insight into the molecular pathology of pseudoxanthoma elasticum

Chapter 7: ABCC6 mutations in pseudoxanthoma elasticum : an update including eight novel ones

Chapter 8: Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum

Chapter 9: General discussion

Chapter 10: Summary / samenvatting

List of publications

Dankwoord

Curriculum vitae