Stephanie Smetsers

Chapter 1 General introduction and thesis outline 9
Chapter 2 Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma 33
Chapter 3 Exploring the phenotype and course of disease of the Dutch Fanconi anemia FANCC c.67delG mutation 45
Chapter 4 Four decades of stem cell transplantation for Fanconi anemia in the Netherlands 57
Chapter 5 Noninvasive molecular screening for oral precancer in Fanconi anemia patients 85
Chapter 6 Care for patients with rare diseases 113
Chapter 7 General discussion 125
Chapter 8 Summary 135
Nederlandse samenvatting 141
Addendum List of publications 149
Authors’ affiliations 153
Curriculum vitae 159
Dankwoord 161