Ravindran, Ethiraj

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. [electronic resource] - PLoS genetics 04 2017 - e1006746 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1553-7404

10.1371/journal.pgen.1006746 doi


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