Heterozygous mutations of OTX2 cause severe ocular malformations.
Ragge, Nicola K
Heterozygous mutations of OTX2 cause severe ocular malformations. [electronic resource] - American journal of human genetics Jun 2005 - 1008-22 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/430721 doi
Amino Acid Motifs
Amino Acid Sequence
Animals
Anophthalmos--genetics
Brain--diagnostic imaging
Chromosome Mapping
DNA Mutational Analysis
Eye Abnormalities--genetics
Female
Gene Expression Regulation, Developmental
Genes, Homeobox
Genetic Variation
Heterozygote
Homeodomain Proteins--chemistry
Humans
Magnetic Resonance Imaging
Male
Mice
Models, Genetic
Mosaicism
Mutation
Open Reading Frames
Otx Transcription Factors
Pedigree
Penetrance
Protein Structure, Tertiary
Radiography
Sequence Analysis, DNA
Heterozygous mutations of OTX2 cause severe ocular malformations. [electronic resource] - American journal of human genetics Jun 2005 - 1008-22 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/430721 doi
Amino Acid Motifs
Amino Acid Sequence
Animals
Anophthalmos--genetics
Brain--diagnostic imaging
Chromosome Mapping
DNA Mutational Analysis
Eye Abnormalities--genetics
Female
Gene Expression Regulation, Developmental
Genes, Homeobox
Genetic Variation
Heterozygote
Homeodomain Proteins--chemistry
Humans
Magnetic Resonance Imaging
Male
Mice
Models, Genetic
Mosaicism
Mutation
Open Reading Frames
Otx Transcription Factors
Pedigree
Penetrance
Protein Structure, Tertiary
Radiography
Sequence Analysis, DNA