Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

Molecular Vision

Volumn 16, Issue , 2010, Pages 768-773

  Reis, Linda M ^a   Tyler, Rebecca C ^a   Schneider, Adele ^b   Bardakjian, Tanya ^b   Semina, Elena V ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b ALBERT EINSTEIN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX2;

ANOPHTHALMIA; ARTICLE; CONTROLLED STUDY; ETHNICITY; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPOPLASIA; IRIS; IRIS COLOBOMA; MAJOR CLINICAL STUDY; MICROPHTHALMIA; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL;

ANOPHTHALMOS; COHORT STUDIES; EYE ABNORMALITIES; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; MICROPHTHALMOS; PHENOTYPE; SOXB1 TRANSCRIPTION FACTORS;

EID: 77955597653     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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