The work of this thesis investigates the development of, and treatment options for, Hirschsprung disease (HSCR). We explore the missing heritability that is seen in HSCR, modes of development and differentiation of the progenitors of the ENS, suitability of various cell sources for transplantation therapy, and explore other possible treatment avenues for current and future HSCR patients.

Additional Metadata
Keywords Hirschsprung disease, enteric nervous system, neural crest, somatic mutations, copy number variation, Goldberg-Shprintzen syndrome, KIF1BP, missense variations, cell replacement therapy
Promotor R.M.W. Hofstra (Robert) , R.M.H. Wijnen (René) , A.J. Burns (Alan) , M.M. Alves (Maria)
Publisher Erasmus University Rotterdam
ISBN 978-94-6323-646-1
Persistent URL
MacKenzie, K.C. (2019, June 11). Hirschsprung Disease: development & treatment avenues. Erasmus University Rotterdam. Retrieved from