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: Issa, Lina, Mueller, Katrin, Seufert, Katja, Kraemer, Nadine, Rosenkotter, Henning, Ninnemann, Olaf, Buob, Michael, Kaindl, Angela M, Morris-Rosendahl, Deborah J
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
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Research
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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