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Results 1 - 10 of 39 for coloboma
  1. PAX2 gene 
    ... PAX2 gene have been found to cause renal coloboma syndrome. Most variants are specific to each affected ... development, causing the signs and symptoms of renal coloboma syndrome. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  2. PAX6 gene 
    ... PAX6 gene can cause an eye problem called coloboma, in which there is a gap or split ... a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively mild PAX6 ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  3. CHD7 gene 
    ... several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition CHD7_HUMAN FLJ20357 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  4. OTX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition MedlinePlus Genetics provides ... and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11):E278-83. ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  5. HRAS gene 
    ... pieces of tissue in eye structures (choristomas or colobomas), underdeveloped bones, and a disorder called rickets that ...
    https://medlineplus.gov/genetics/gene/hras - Genetics
  6. TFAP2A gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition activating enhancer-binding ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  7. TCOF1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition TCOF_HUMAN TCS ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  8. ACTG1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition ACT ACTG ACTG_ ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  9. KMT2D gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition Some gene variants ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  10. KAT6B gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition Genetic changes involving ...
    https://medlineplus.gov/genetics/gene/kat6b - Genetics
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