Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 4, 2006, Pages 1274-1280

  Bidinost, Carla ^a   Matsumoto, Masayuki ^b   Chung, Daniel ^b   Salem, Nabiha ^c   Zhang, Kang ^d   Stockton, David W ^e   Khoury, Antoine ^c   Megarbane, Andre ^c   Bejjani, Bassem A ^a,f   Traboulsi, Elias I ^b  

^a WASHINGTON STATE UNIVERSITY   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f SACRED HEART MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PITX2; TRANSCRIPTION FACTOR PITX3; UNCLASSIFIED DRUG; HOMEOBOX PROTEIN PITX3; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; CATARACT; CHROMOSOME 10Q; CLINICAL ARTICLE; CONGENITAL DISORDER; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MICROPHTHALMIA; NERVE CELL DIFFERENTIATION; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME; SCORING SYSTEM; CHROMOSOME 10; CONSANGUINITY; FEMALE; GENETIC LINKAGE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; LEBANON; MALE; MUTATION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PEDIGREE;

CATARACT; CHROMOSOMES, HUMAN, PAIR 10; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; LEBANON; LINKAGE (GENETICS); LOD SCORE; MALE; MICROPHTHALMOS; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 33645978444     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-1095     Document Type: Article

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