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The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Marc Trimborn*, Reyk Richter, Nadine Sternberg, Ioannis Gavvovidis, Detlev Schindler, Andrew P. Jackson, Eva Christina Prott, Karl Sperling, Gabriele Gillessen-Kaesbach, Heidemarie Neitzel

*Corresponding author for this work
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Biochemistry, Genetics and Molecular Biology