TY  - GEN
AU  - Ragge,Nicola K
AU  - Brown,Alison G
AU  - Poloschek,Charlotte M
AU  - Lorenz,Birgit
AU  - Henderson,R Alex
AU  - Clarke,Michael P
AU  - Russell-Eggitt,Isabelle
AU  - Fielder,Alistair
AU  - Gerrelli,Dianne
AU  - Martinez-Barbera,Juan Pedro
AU  - Ruddle,Piers
AU  - Hurst,Jane
AU  - Collin,J Richard O
AU  - Salt,Alison
AU  - Cooper,Simon T
AU  - Thompson,Pamela J
AU  - Sisodiya,Sanjay M
AU  - Williamson,Kathleen A
AU  - Fitzpatrick,David R
AU  - van Heyningen,Veronica
AU  - Hanson,Isabel M
TI  - Heterozygous mutations of OTX2 cause severe ocular malformations
SN  - 0002-9297
PY  - 2005///0708
KW  - Amino Acid Motifs
KW  - Amino Acid Sequence
KW  - Animals
KW  - Anophthalmos
KW  - genetics
KW  - Brain
KW  - diagnostic imaging
KW  - Chromosome Mapping
KW  - DNA Mutational Analysis
KW  - Eye Abnormalities
KW  - Female
KW  - Gene Expression Regulation, Developmental
KW  - Genes, Homeobox
KW  - Genetic Variation
KW  - Heterozygote
KW  - Homeodomain Proteins
KW  - chemistry
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mice
KW  - Models, Genetic
KW  - Mosaicism
KW  - Mutation
KW  - Open Reading Frames
KW  - Otx Transcription Factors
KW  - Pedigree
KW  - Penetrance
KW  - Protein Structure, Tertiary
KW  - Radiography
KW  - Sequence Analysis, DNA
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/430721
ER  -