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Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
BACKGROUND: Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in t...
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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2013
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3639195/ https://ncbi.nlm.nih.gov/pubmed/23587236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-59 |
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