Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2706-2715

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

^a Division of Genetics   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Anophthalmia; Microphthalmia; SOX2

Indexed keywords

TRANSCRIPTION FACTOR SOX2;

AMINO ACID SEQUENCE; ANOPHTHALMIA; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ANOPHTHALMOS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SOXB1 TRANSCRIPTION FACTORS;

VERTEBRATA;

EID: 71949107898     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33098     Document Type: Article

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