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Results 1 - 3 of 3 for Anophthalmia
  1. SOX2 gene 
    ... SOX2 gene have been found to cause SOX2 anophthalmia syndrome. Some of these mutations prevent the gene ... structures causes the signs and symptoms of SOX2 anophthalmia syndrome. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  2. OTX2 gene 
    ... Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional ... Fujieda K. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  3. SMOC1 gene 
    ... calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet. 2011 Jan 7; ... BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 ...
    https://medlineplus.gov/genetics/gene/smoc1 - Genetics