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

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Medicine & Life Sciences