Intellectual disability and other neurological diseases in childhood often result from congenital disorders, some being caused by genetic mutations, following Mendelian and non-mendelian (multifactorial) inheritance. Congenital disorders of the brain are sometimes recognizable at birth and affect the structure of the brain and or the head size. One of these disorders is congenital microcephaly, the topic of this thesis. In order to introduce the experimental work I will review the concept and defi nition, illustrate the importance of studying this topic for the understanding of human brain evolution and present the current hypothesis about disease pathogenesis.

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The printing of this thesis was fi nancially supported by: Erasmus University Rotterdam Department of Clinical Genetics, Erasmus MC J.E.Jurriaanse Stichting
R.M.W. Hofstra (Robert) , F.G. Grosveld (Frank)
Erasmus University Rotterdam
hdl.handle.net/1765/40679
Erasmus MC: University Medical Center Rotterdam

Poulton, C. (2013, June 26). Genes and Mechanisms in Primary Microcephaly. Retrieved from http://hdl.handle.net/1765/40679