TY  - GEN
AU  - Fantes,Judy
AU  - Ragge,Nicola K
AU  - Lynch,Sally-Ann
AU  - McGill,Niolette I
AU  - Collin,J Richard O
AU  - Howard-Peebles,Patricia N
AU  - Hayward,Caroline
AU  - Vivian,Anthony J
AU  - Williamson,Kathy
AU  - van Heyningen,Veronica
AU  - FitzPatrick,David R
TI  - Mutations in SOX2 cause anophthalmia
SN  - 1061-4036
PY  - 2003///0516
KW  - Anophthalmos
KW  - genetics
KW  - Chromosomes, Human, Pair 3
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Databases as Topic
KW  - Family Health
KW  - Female
KW  - Gene Deletion
KW  - HMGB Proteins
KW  - Heterozygote
KW  - Humans
KW  - Introns
KW  - Male
KW  - Microphthalmos
KW  - Models, Genetic
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nuclear Proteins
KW  - Phenotype
KW  - SOXB1 Transcription Factors
KW  - Transcription Factors
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1038/ng1120
ER  -