Molecular characterization of a chromosome 1;22 translocation in a patient with a phenotype resembling Costello syndrome [Elektronische Ressource] / by Markéta Šutajová

Molecular characterization of a chromosome 1;22 translocation in a patient with a phenotype resembling Costello syndrome A Dissertation in the Partial Fulfillment of the Requirements for the Degree of Doctor of Natural Science at University of Hamburg by Markéta Šutajová Hamburg, 2004 Table of Contents I Table of Contents LIST OF FIGURES ...............................................................................................................IV LIST OF TABLES.................VI ABBREVIATIONS.............. VII I. INTRODUCTION............................................................................................................ 1 1. Costello syndrome............ 1 1.1 Clinical features.......... 1 1.2 Differential diagnosis ................................................................................................. 3 1.3 Mode of inheritance... 4 1.4 Pathogenesis and candidate genes.............. 4 2. Platelet-derived growth factor ........................................................................................ 7 2.1 Platelet-derived growth factor isoforms and receptors.............. 7 2.2 In vivo function of platelet-derived growth factor..................... 8 2.3 Platelet-derived growth factor in disease ................................................................... 8 2.4 Attachment of platelet-derived growth factor to the extracellular matrix..................