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Volumn 90, Issue 6, 2012, Pages
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Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family
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Author keywords
[No Author keywords available]
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Indexed keywords
ARGININE;
PROLINE;
TRANSCRIPTION FACTOR OTX2;
ANOPHTHALMIA;
BIOINFORMATICS;
CASE REPORT;
CHINESE;
CODON;
DNA SEQUENCE;
EXON;
FEMALE;
GENE;
GENE IDENTIFICATION;
GENE MUTATION;
GENETIC ASSOCIATION;
GENETIC COUNSELING;
HETEROZYGOSITY;
HUMAN;
HYDROPHILICITY;
INTRON;
LETTER;
MALE;
MICROPHTHALMIA;
MISSENSE MUTATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NUCLEOTIDE SEQUENCE;
OPTIC NERVE HYPOPLASIA;
OTX2 GENE;
PAX2 GENE;
PHENOTYPE;
PRENATAL CARE;
PRIORITY JOURNAL;
PROTEIN FUNCTION;
SOX2 GENE;
TRANSACTIVATION;
TRANSCRIPTION INITIATION SITE;
VITREOUS OPACITY;
ANOPHTHALMOS;
ASIAN CONTINENTAL ANCESTRY GROUP;
CHILD;
CHINA;
FAMILY HEALTH;
FEMALE;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MALE;
MICROPHTHALMOS;
MIDDLE AGED;
MUTATION;
OTX TRANSCRIPTION FACTORS;
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EID: 84865699408
PISSN: 1755375X
EISSN: 17553768
Source Type: Journal
DOI: 10.1111/j.1755-3768.2011.02345.x Document Type: Letter |
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Times cited : (5)
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References (3)
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