Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. [electronic resource]
Producer: 20170601Description: e1006746 p. digitalISSN:- 1553-7404
- Animals
- Cell Movement -- genetics
- Cytoskeleton -- genetics
- Exome -- genetics
- Female
- Frameshift Mutation -- genetics
- High-Throughput Nucleotide Sequencing
- Homozygote
- Humans
- Intellectual Disability -- diagnostic imaging
- Magnetic Resonance Imaging
- Male
- Mesencephalon -- diagnostic imaging
- Mice
- Pedigree
- Rho Guanine Nucleotide Exchange Factors -- genetics
- Rhombencephalon -- diagnostic imaging
- Signal Transduction
- rhoA GTP-Binding Protein -- genetics
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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