Article
Many roads lead to primary autosomal recessive microcephaly.
Progress in neurobiology - 1 Mar 2010
Kaindl Angela M, Passemard Sandrine, Kumar Pavan, Kraemer Nadine, Issa Lina, Zwirner Angelika, Gerard Benedicte, Verloes Alain, Mani Shyamala, Gressens Pierre
Abstract excerpt
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically exhibit congenital microcephaly as well as mental retardation, but usually no further neurological findings or malformations. Their microcephaly with grossly preserved macroscopic organization of the brain is a consequence of a reduced...
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