Whole-genome copy number variation analysis in anophthalmia and microphthalmia

Clinical Genetics

Volumn 84, Issue 5, 2013, Pages 473-481

  Schilter, Kf ^a,b   Reis, Lm ^a   Schneider, A ^c   Bardakjian, Tm ^c   Abdul Rahman, O ^d   Kozel, Ba ^e   Zimmerman, Hh ^d   Broeckel, U ^a   Semina, Ev ^a,b  

^a Medical College of Wisconsin and Children's Hospital of Wisconsin ^*  (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c ALBERT EINSTEIN MEDICAL CENTER   (United States)

^d UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

2q14; 3q29; Anophthalmia; Copy number variation; Microphthalmia; NF1; PAX6; SOX2

Indexed keywords

ANOPHTHALMIA; ARTICLE; CHROMOSOME DUPLICATION; CONGENITAL CATARACT; COPY NUMBER VARIATION; GENE DELETION; GENE MUTATION; GENOME; HUMAN; MAJOR CLINICAL STUDY; MICROPHTHALMIA; PHENOTYPE; PRIORITY JOURNAL;

VERTEBRATA;

2Q14; 3Q29; ANOPHTHALMIA; COPY NUMBER VARIATION; MICROPHTHALMIA; NF1; PAX6; SOX2;

ADOLESCENT; ADULT; ANOPHTHALMOS; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; DNA COPY NUMBER VARIATIONS; EYE PROTEINS; FEMALE; GENOME, HUMAN; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; NEUROFIBROMIN 1; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; SOXB1 TRANSCRIPTION FACTORS;

EID: 84885863395     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12202     Document Type: Article

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