OTX2 microphthalmia syndrome: Four novel mutations and delineation of a phenotype

Clinical Genetics

Volumn 79, Issue 2, 2011, Pages 158-168

  Schilter, K F ^a,b   Schneider, A ^c   Bardakjian, T ^c   Soucy, J F ^d   Tyler, R C ^a   Reis, L M ^a   Semina, E V ^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 MONTREAL   (Canada)

Author keywords

Anophthalmia; Microphthalmia; OTX2; Pituitary

Indexed keywords

TRANSCRIPTION FACTOR OTX2;

AMINO ACID SEQUENCE; ANOPHTHALMIA; ANUS DISEASE; ANUS MALFORMATION; ARTICLE; CHILD; CLINICAL FEATURE; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; MICROPHTHALMIA SYNDROME; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYNDROME DELINEATION; WOLF HIRSCHHORN SYNDROME;

ANOPHTHALMOS; CHILD, PRESCHOOL; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; MICROPHTHALMOS; MUTATION; OTX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; SYNDROME;

VERTEBRATA;

EID: 78650917524     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01450.x     Document Type: Article

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