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Results 1 - 3 of 3 for "Microphthalmia," syndromic 12
  1. Anophthalmia/microphthalmia-esophageal atresia syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... Ayuso C, Allen L, Collin JR, Ragge NK. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency ...
    https://medlineplus.gov/...icrophthalmia-esophageal-atresia-syndrome - Genetics
  2. SOX2 gene 
    ... Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. Hum Genet. 2019 Sep;138(8-9):799- ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  3. Coloboma 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MICROPHTHALMIA/COLOBOMA 12; MCOPCB12 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE PubMed Bernstein CS, ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics