TY  - GEN
AU  - Ravindran,Ethiraj
AU  - Hu,Hao
AU  - Yuzwa,Scott A
AU  - Hernandez-Miranda,Luis R
AU  - Kraemer,Nadine
AU  - Ninnemann,Olaf
AU  - Musante,Luciana
AU  - Boltshauser,Eugen
AU  - Schindler,Detlev
AU  - Hübner,Angela
AU  - Reinecker,Hans-Christian
AU  - Ropers,Hans-Hilger
AU  - Birchmeier,Carmen
AU  - Miller,Freda D
AU  - Wienker,Thomas F
AU  - Hübner,Christoph
AU  - Kaindl,Angela M
TI  - Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation
SN  - 1553-7404
PY  - 2017///0601
KW  - Animals
KW  - Cell Movement
KW  - genetics
KW  - Cytoskeleton
KW  - Exome
KW  - Female
KW  - Frameshift Mutation
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Intellectual Disability
KW  - diagnostic imaging
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mesencephalon
KW  - Mice
KW  - Pedigree
KW  - Rho Guanine Nucleotide Exchange Factors
KW  - Rhombencephalon
KW  - Signal Transduction
KW  - rhoA GTP-Binding Protein
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1371/journal.pgen.1006746
ER  -