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Primary microcephaly caused by novel compound heterozygous mutations in ASPM
Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who p...
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| Veröffentlicht in: | Hum Genome Var |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5885039/ https://ncbi.nlm.nih.gov/pubmed/29644084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.15 |
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