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
*Korrespondierende/r Autor/-in für diese Arbeit
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