Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation

Molecular Vision

Volumn 17, Issue , 2011, Pages 1231-1238

  Law, Simon K ^a   Sami, Maha ^a   Piri, Natik ^a   Coleman, Anne L ^a   Caprioli, Joseph ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYTOSINE; GLUTAMINE; THYMINE;

ANIRIDIA; ANTERIOR EYE SEGMENT; ARTICLE; AXENFELD RIEGER ANOMALY; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; EXON; EYE EXAMINATION; EYE MALFORMATION; FACE MALFORMATION; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; GLAUCOMA; HETEROZYGOTE; HUMAN; HYPODONTIA; INCISOR; INFANT; MALE; MEDICAL RECORD REVIEW; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PITUITARY HOMEOBOX 2 GENE; PRIORITY JOURNAL; STOP CODON; TOOTH DISEASE;

ABNORMALITIES, MULTIPLE; ANIRIDIA; ANTERIOR EYE SEGMENT; BASE SEQUENCE; CHILD; DIAGNOSIS, DIFFERENTIAL; EYE; EYE ABNORMALITIES; FEMALE; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 79957438234     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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