Genetic regulation of human brain development: lessons from Mendelian diseases.


One of the fundamental goals in human genetics is to link gene function to phenotype, yet the function of the majority of the genes in the human body is still poorly understood. This is especially true for the developing human brain. The study of human phenotypes that result from inherited, mutated alleles is the most direct evidence for the requirement of… (More)
DOI: 10.1111/j.1749-6632.2010.05819.x