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Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations |
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| Authors: | Hao Hu Vanessa Suckow Luciana Musante Viola Roggenkamp Nadine Kraemer Hans-Hilger Ropers |
| Affiliation: | 1. Max Planck Institute for Molecular Genetics;2. Berlin, Germany;3. Department of Pediatric Neurology;4. Charité University Medicine Berlin;5. Institute of Cell Biology and Neurobiology |
| Abstract: | |
| Keywords: | MCPH ASPM congenital microcephaly intellectual deficit compound heterozygous mutation Reunion paradox |