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2. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Reis LM; Tyler RC; Schneider A; Bardakjian T; Semina EV Mol Vis; 2010 Apr; 16():768-73. PubMed ID: 20454695 [TBL] [Abstract][Full Text] [Related]
3. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890 [TBL] [Abstract][Full Text] [Related]
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7. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. Kelberman D; de Castro SC; Huang S; Crolla JA; Palmer R; Gregory JW; Taylor D; Cavallo L; Faienza MF; Fischetto R; Achermann JC; Martinez-Barbera JP; Rizzoti K; Lovell-Badge R; Robinson IC; Gerrelli D; Dattani MT J Clin Endocrinol Metab; 2008 May; 93(5):1865-73. PubMed ID: 18285410 [TBL] [Abstract][Full Text] [Related]
8. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Schneider A; Bardakjian T; Reis LM; Tyler RC; Semina EV Am J Med Genet A; 2009 Dec; 149A(12):2706-15. PubMed ID: 19921648 [TBL] [Abstract][Full Text] [Related]