TY  - GEN
AU  - Beltrán-Valero de Bernabé,Daniel
AU  - Currier,Sophie
AU  - Steinbrecher,Alice
AU  - Celli,Jacopo
AU  - van Beusekom,Ellen
AU  - van der Zwaag,Bert
AU  - Kayserili,Hülya
AU  - Merlini,Luciano
AU  - Chitayat,David
AU  - Dobyns,William B
AU  - Cormand,Bru
AU  - Lehesjoki,Ana-Elina
AU  - Cruces,Jesús
AU  - Voit,Thomas
AU  - Walsh,Christopher A
AU  - van Bokhoven,Hans
AU  - Brunner,Han G
TI  - Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
SN  - 0002-9297
PY  - 2003///0331
KW  - Abnormalities, Multiple
KW  - embryology
KW  - Brain
KW  - abnormalities
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Cytoskeletal Proteins
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Dystroglycans
KW  - Eye Abnormalities
KW  - genetics
KW  - Female
KW  - Fetal Death
KW  - Glycosylation
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant
KW  - Male
KW  - Mannosyltransferases
KW  - Membrane Glycoproteins
KW  - Molecular Sequence Data
KW  - Pedigree
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/342975
ER  -